Linked Data
ClinVar Variation Id:
9133
ClinVar RCV Id:
RCV000009704
dbSNP Id:
rs3026906
ExAC:
1:21546501 G / A
gnomAD v2:
1-21546501-G-A
gnomAD v3:
1-21220008-G-A
gnomAD v4:
1-21220008-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21220008G>A , CM000663.2:g.21220008G>A | GRCh38 |
| NC_000001.10:g.21546501G>A , CM000663.1:g.21546501G>A | GRCh37 |
| NC_000001.9:g.21419088G>A | NCBI36 |
| NG_013008.1:g.130534C>T | |
| NG_013008.2:g.130534C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374893.11:c.2260C>T MANE Select | ENSP00000364028.6:p.Arg754Cys | |
| ENST00000649812.1:c.2212C>T | ENSP00000497333.1:p.Arg738Cys | |
| ENST00000264205.10:c.2251C>T | ENSP00000264205.6:p.Arg751Cys | |
| ENST00000357071.8:c.2224C>T | ENSP00000349581.4:p.Arg742Cys | |
| ENST00000374893.10:c.2260C>T | ENSP00000364028.6:p.Arg754Cys | |
| ENST00000415912.6:c.2212C>T | ENSP00000405088.2:p.Arg738Cys | |
| ENST00000436918.6:c.2164C>T | ENSP00000388439.2:p.Arg722Cys | |
| ENST00000531334.1:n.459C>T | ||
| NM_001113347.1:c.2224C>T | NP_001106818.1:p.Arg742Cys | |
| NM_001113348.1:c.2212C>T | NP_001106819.1:p.Arg738Cys | |
| NM_001113349.1:c.2251C>T | NP_001106820.1:p.Arg751Cys | |
| NM_001397.2:c.2260C>T | NP_001388.1:p.Arg754Cys | |
| XM_006710398.1:c.2209C>T | XP_006710461.1:p.Arg737Cys | |
| XM_011540872.1:c.2284C>T | XP_011539174.1:p.Arg762Cys | |
| XM_011540873.1:c.2209C>T | XP_011539175.1:p.Arg737Cys | |
| XM_006710398.2:c.2209C>T | XP_006710461.1:p.Arg737Cys | |
| XM_011540872.2:c.2284C>T | XP_011539174.1:p.Arg762Cys | |
| XM_011540873.2:c.2209C>T | XP_011539175.1:p.Arg737Cys | |
| NM_001397.3:c.2260C>T MANE Select | NP_001388.1:p.Arg754Cys | |
| NM_001113347.2:c.2224C>T | NP_001106818.1:p.Arg742Cys | |
| NM_001113348.2:c.2212C>T | NP_001106819.1:p.Arg738Cys | |
| NM_001113349.2:c.2251C>T | NP_001106820.1:p.Arg751Cys |