Linked Data
ClinVar Variation Id:
185
ClinVar RCV Id:
RCV000000208
dbSNP Id:
rs267606773
gnomAD v2:
8-105405152-C-T
gnomAD v3:
8-104392924-C-T
gnomAD v4:
8-104392924-C-T
COSMIC:
COSM3727688
PubMed:
PMID:9718352
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104392924C>T , CM000670.2:g.104392924C>T | GRCh38 |
| NC_000008.10:g.105405152C>T , CM000670.1:g.105405152C>T | GRCh37 |
| NC_000008.9:g.105474328C>T | NCBI36 |
| NG_008840.1:g.79126G>A | |
| NG_008840.2:g.79126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351513.7:c.1303G>A MANE Select | ENSP00000276651.2:p.Gly435Arg | |
| ENST00000351513.6:c.1303G>A | ENSP00000276651.2:p.Gly435Arg | |
| ENST00000520483.5:n.207G>A | ||
| ENST00000521372.1:n.135G>A | ||
| ENST00000521601.1:n.198-11610G>A | ||
| NM_001385.2:c.1303G>A | NP_001376.1:p.Gly435Arg | |
| XM_005250818.2:c.1411G>A | XP_005250875.1:p.Gly471Arg | |
| XM_006716518.2:c.1252G>A | XP_006716581.1:p.Gly418Arg | |
| XM_011516903.1:c.1411G>A | XP_011515205.1:p.Gly471Arg | |
| XM_005250818.3:c.1411G>A | XP_005250875.1:p.Gly471Arg | |
| XM_006716518.3:c.1252G>A | XP_006716581.1:p.Gly418Arg | |
| XM_011516903.3:c.1411G>A | XP_011515205.1:p.Gly471Arg | |
| XM_024447087.1:c.1411G>A | XP_024302855.1:p.Gly471Arg | |
| XR_001745489.1:n.1902G>A | ||
| XR_001745490.2:n.1794G>A | ||
| NM_001385.3:c.1303G>A MANE Select | NP_001376.1:p.Gly435Arg |