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Table 4 Ambiguities using HGVS nomenclature arising from overlapping genes and different sources, by the example of variant rs121913529

From: Variant information systems for precision oncology

Ensembl HGVS

dbSNP HGVS

Associated

  

gene

NC_000012.11:g.25398284C>G

 

KRAS

ENST00000256078.4:c.35G >C

NM_033360.3:c.35G >C

KRAS-004

ENSP00000256078.4:p.Gly12Ala

NP_203524.1:p.Gly12Ala

KRAS-004

ENST00000311936.3:c.35G >C

NM_004985.4:c.35G >C

KRAS-001

ENSP00000308495.3:p.Gly12Ala

NP_004976.2:p.Gly12Ala

KRAS-001

ENST00000556131.1:c.35G >C

 

KRAS-002

ENSP00000451856.1:p.Gly12Ala

 

KRAS-002

ENST00000557334.1:c.35G >C

 

KRAS-003

ENSP00000452512.1:p.Gly12Ala

 

KRAS-003

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BMC Medical Informatics and Decision Making

ISSN: 1472-6947

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