Linked Data
ClinVar Variation Id:
2175311
ClinVar RCV Id:
RCV002602302
dbSNP Id:
rs748925713
gnomAD v2:
6-80197044-C-A
gnomAD v4:
6-79487327-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79487327C>A , CM000668.2:g.79487327C>A | GRCh38 |
| NC_000006.11:g.80197044C>A , CM000668.1:g.80197044C>A | GRCh37 |
| NC_000006.10:g.80253763C>A | NCBI36 |
| NG_016011.1:g.55104G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369846.9:c.1771G>T MANE Select | ENSP00000358861.4:p.Gly591Cys | |
| ENST00000369846.8:c.1771G>T | ENSP00000358861.4:p.Gly591Cys | |
| ENST00000392959.5:c.1771G>T | ENSP00000376686.1:p.Gly591Cys | |
| NM_001122769.2:c.1771G>T | NP_001116241.1:p.Gly591Cys | |
| NM_181714.3:c.1771G>T | NP_859065.2:p.Gly591Cys | |
| XM_005248665.3:c.1771G>T | XP_005248722.1:p.Gly591Cys | |
| XM_011535504.1:c.1771G>T | XP_011533806.1:p.Gly591Cys | |
| XR_942715.1:n.544-1106C>A | ||
| XR_942716.1:n.506-1106C>A | ||
| XR_942717.1:n.778-1106C>A | ||
| XM_005248665.4:c.1771G>T | XP_005248722.1:p.Gly591Cys | |
| XR_001744213.1:n.2169-1106C>A | ||
| XR_001744214.1:n.2131-1106C>A | ||
| NM_001122769.3:c.1771G>T MANE Select | NP_001116241.1:p.Gly591Cys | |
| NM_181714.4:c.1771G>T | NP_859065.2:p.Gly591Cys |