Nomenclature for the description of human sequence variations

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data (2010, methodology): “We utilized a standardized nomenclature (17) to annotate non-synonymous SNVs and indels on cDNA or on proteins.”
The NOX family of ROS-generating NADPH oxidases: physiology and pathophysiology. (2007, background): “The position of the nucleotide substitution is given relative to the start codon (207).”
IPD—the Immuno Polymorphism Database (2012, positive): “The alignment tool uses standard formatting conventions for the display of sequence alignments; these are based on those currently used by the IMGT/HLA Sequence Database (11–14) and published recommendations for Human Gene Mutations (15,16).”
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans (2007, methodology): “The database listed in Supplementary Tables S1–S4 complies with the nomenclature guidelines set by the Human Genome Variation Society (HSVG) [den Dunnen and Antonarakis, 2001; den Dunnen and Paalman, 2003].”