Linked Data
dbSNP Id:
rs766305911
ExAC:
5:141026985 C / T
gnomAD v2:
5-141026985-C-T
gnomAD v3:
5-141647418-C-T
gnomAD v4:
5-141647418-C-T
COSMIC:
COSM205304
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141647418C>T , CM000667.2:g.141647418C>T | GRCh38 |
| NC_000005.9:g.141026985C>T , CM000667.1:g.141026985C>T | GRCh37 |
| NC_000005.8:g.141007169C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435817.7:c.808G>A MANE Select | ENSP00000399259.2:p.Gly270Arg | |
| ENST00000435817.6:c.808G>A | ENSP00000399259.2:p.Gly270Arg | |
| ENST00000522126.5:c.580G>A | ENSP00000427796.1:p.Gly194Arg | |
| ENST00000522386.1:n.414G>A | ||
| ENST00000522763.5:n.112G>A | ||
| ENST00000522783.5:c.802G>A | ENSP00000428677.1:p.Gly268Arg | |
| ENST00000523856.5:n.66G>A | ||
| NM_033449.2:c.808G>A | NP_258260.1:p.Gly270Arg | |
| XM_005268524.3:c.802G>A | XP_005268581.1:p.Gly268Arg | |
| XM_006714803.2:c.679G>A | XP_006714866.1:p.Gly227Arg | |
| XM_011537698.1:c.808G>A | XP_011536000.1:p.Gly270Arg | |
| XM_011537699.1:c.808G>A | XP_011536001.1:p.Gly270Arg | |
| XM_011537700.1:c.808G>A | XP_011536002.1:p.Gly270Arg | |
| XM_011537701.1:c.808G>A | XP_011536003.1:p.Gly270Arg | |
| XR_427781.2:n.862G>A | ||
| XR_944338.1:n.868G>A | ||
| XR_944339.1:n.868G>A | ||
| XM_005268524.5:c.802G>A | XP_005268581.1:p.Gly268Arg | |
| XM_006714803.4:c.679G>A | XP_006714866.1:p.Gly227Arg | |
| XM_011537698.3:c.808G>A | XP_011536000.1:p.Gly270Arg | |
| XM_011537700.3:c.808G>A | XP_011536002.1:p.Gly270Arg | |
| XM_011537701.3:c.808G>A | XP_011536003.1:p.Gly270Arg | |
| XM_017010013.2:c.808G>A | XP_016865502.1:p.Gly270Arg | |
| XR_002956197.1:n.804G>A | ||
| XR_427781.4:n.804G>A | ||
| XR_944338.3:n.883G>A | ||
| XR_944339.3:n.883G>A | ||
| NM_033449.3:c.808G>A MANE Select | NP_258260.1:p.Gly270Arg |