Linked Data
ClinVar Variation Id:
100133
ClinVar RCV Id:
RCV000086516
dbSNP Id:
rs373070454
ExAC:
8:105405043 T / C
gnomAD v2:
8-105405043-T-C
gnomAD v3:
8-104392815-T-C
gnomAD v4:
8-104392815-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104392815T>C , CM000670.2:g.104392815T>C | GRCh38 |
| NC_000008.10:g.105405043T>C , CM000670.1:g.105405043T>C | GRCh37 |
| NC_000008.9:g.105474219T>C | NCBI36 |
| NG_008840.1:g.79235A>G | |
| NG_008840.2:g.79235A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351513.7:c.1412A>G MANE Select | ENSP00000276651.2:p.Tyr471Cys | |
| ENST00000351513.6:c.1412A>G | ENSP00000276651.2:p.Tyr471Cys | |
| ENST00000520483.5:n.316A>G | ||
| ENST00000521372.1:n.244A>G | ||
| ENST00000521601.1:n.198-11501A>G | ||
| ENST00000533874.1:c.42A>G | ||
| NM_001385.2:c.1412A>G | NP_001376.1:p.Tyr471Cys | |
| XM_005250818.2:c.1520A>G | XP_005250875.1:p.Tyr507Cys | |
| XM_006716518.2:c.1361A>G | XP_006716581.1:p.Tyr454Cys | |
| XM_011516903.1:c.1520A>G | XP_011515205.1:p.Tyr507Cys | |
| XM_005250818.3:c.1520A>G | XP_005250875.1:p.Tyr507Cys | |
| XM_006716518.3:c.1361A>G | XP_006716581.1:p.Tyr454Cys | |
| XM_011516903.3:c.1520A>G | XP_011515205.1:p.Tyr507Cys | |
| XM_024447087.1:c.1520A>G | XP_024302855.1:p.Tyr507Cys | |
| XR_001745489.1:n.2011A>G | ||
| XR_001745490.2:n.1903A>G | ||
| NM_001385.3:c.1412A>G MANE Select | NP_001376.1:p.Tyr471Cys |