Linked Data
ClinVar Variation Id:
2923388
ClinVar RCV Id:
RCV003780506
dbSNP Id:
rs369030385
ExAC:
12:88477624 C / A
gnomAD v2:
12-88477624-C-A
gnomAD v3:
12-88083847-C-A
gnomAD v4:
12-88083847-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88083847C>A , CM000674.2:g.88083847C>A | GRCh38 |
| NC_000012.11:g.88477624C>A , CM000674.1:g.88477624C>A | GRCh37 |
| NC_000012.10:g.87001755C>A | NCBI36 |
| NG_008417.1:g.63370G>T | |
| NG_008417.2:g.63370G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.4812G>T | ENSP00000308021.8:p.Trp1604Cys | |
| ENST00000547691.8:c.2096G>T | ||
| ENST00000552810.6:c.4812G>T MANE Select | ENSP00000448012.1:p.Trp1604Cys | |
| ENST00000672414.2:c.*2983G>T | ENSP00000500729.1:n.*2983G>T | |
| ENST00000672647.1:n.3172G>T | ||
| ENST00000673058.2:c.4812G>T | ENSP00000500665.2:p.Trp1604Cys | |
| ENST00000674971.1:c.4812G>T | ENSP00000502194.1:p.Trp1604Cys | |
| ENST00000675230.1:c.4791G>T | ENSP00000502503.1:p.Trp1597Cys | |
| ENST00000675408.1:c.4812G>T | ENSP00000502298.1:p.Trp1604Cys | |
| ENST00000675476.1:c.5673G>T | ENSP00000502161.1:p.Trp1891Cys | |
| ENST00000675628.1:n.5039G>T | ||
| ENST00000675794.1:c.*2983G>T | ENSP00000502841.1:n.*2983G>T | |
| ENST00000675833.1:c.5580G>T | ENSP00000502559.1:p.Trp1860Cys | |
| ENST00000675894.1:n.1117G>T | ||
| ENST00000676074.1:c.4812G>T | ENSP00000502079.1:p.Trp1604Cys | |
| ENST00000676181.1:n.3740G>T | ||
| ENST00000676363.1:n.10538G>T | ||
| ENST00000676448.1:c.*2725G>T | ENSP00000501987.1:n.*2725G>T | |
| ENST00000309041.11:c.4818G>T | ENSP00000308021.7:p.Trp1606Cys | |
| ENST00000547691.6:c.1992G>T | ENSP00000446905.1:p.Trp664Cys | |
| ENST00000552810.5:c.4812G>T | ENSP00000448012.1:p.Trp1604Cys | |
| NM_025114.3:c.4812G>T | NP_079390.3:p.Trp1604Cys | |
| XM_011538756.1:c.5673G>T | XP_011537058.1:p.Trp1891Cys | |
| XM_011538757.1:c.5673G>T | XP_011537059.1:p.Trp1891Cys | |
| XM_011538758.1:c.5673G>T | XP_011537060.1:p.Trp1891Cys | |
| XM_011538759.1:c.5673G>T | XP_011537061.1:p.Trp1891Cys | |
| XM_011538760.1:c.5673G>T | XP_011537062.1:p.Trp1891Cys | |
| XM_011538761.1:c.5673G>T | XP_011537063.1:p.Trp1891Cys | |
| XM_011538762.1:c.4905G>T | XP_011537064.1:p.Trp1635Cys | |
| XM_011538763.1:c.4812G>T | XP_011537065.1:p.Trp1604Cys | |
| XM_011538764.1:c.5673G>T | XP_011537066.1:p.Trp1891Cys | |
| XM_011538765.1:c.5673G>T | XP_011537067.1:p.Trp1891Cys | |
| XM_011538766.1:c.4134G>T | XP_011537068.1:p.Trp1378Cys | |
| XM_011538756.3:c.5673G>T | XP_011537058.1:p.Trp1891Cys | |
| XM_011538757.3:c.5673G>T | XP_011537059.1:p.Trp1891Cys | |
| XM_011538758.3:c.5673G>T | XP_011537060.1:p.Trp1891Cys | |
| XM_011538759.2:c.5673G>T | XP_011537061.1:p.Trp1891Cys | |
| XM_011538760.2:c.5673G>T | XP_011537062.1:p.Trp1891Cys | |
| XM_011538761.2:c.5673G>T | XP_011537063.1:p.Trp1891Cys | |
| XM_011538762.3:c.4905G>T | XP_011537064.1:p.Trp1635Cys | |
| XM_011538763.3:c.4812G>T | XP_011537065.1:p.Trp1604Cys | |
| XM_011538764.3:c.5673G>T | XP_011537066.1:p.Trp1891Cys | |
| XM_011538765.3:c.5673G>T | XP_011537067.1:p.Trp1891Cys | |
| XM_011538766.3:c.4134G>T | XP_011537068.1:p.Trp1378Cys | |
| XM_017019980.2:c.5673G>T | XP_016875469.1:p.Trp1891Cys | |
| XM_017019981.2:c.5673G>T | XP_016875470.1:p.Trp1891Cys | |
| XM_017019982.1:c.5673G>T | XP_016875471.1:p.Trp1891Cys | |
| XM_017019983.2:c.4791G>T | XP_016875472.1:p.Trp1597Cys | |
| XR_001748869.1:n.6017G>T | ||
| XR_001748870.2:n.6017G>T | ||
| NM_025114.4:c.4812G>T MANE Select | NP_079390.3:p.Trp1604Cys |