Linked Data
ClinVar Variation Id:
1675316
ClinVar RCV Id:
RCV002211045
dbSNP Id:
rs371412889
ExAC:
6:32006951 C / T
gnomAD v2:
6-32006951-C-T
gnomAD v3:
6-32039174-C-T
gnomAD v4:
6-32039174-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039174C>T , CM000668.2:g.32039174C>T | GRCh38 |
| NC_000006.11:g.32006951C>T , CM000668.1:g.32006951C>T | GRCh37 |
| NC_000006.10:g.32114930C>T | NCBI36 |
| NG_007941.2:g.5867C>T | |
| NG_008337.2:g.75201G>A | |
| NG_007941.3:g.5870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.373C>T MANE Select | ENSP00000496625.1:p.Arg125Cys | |
| ENST00000418967.6:c.373C>T | ENSP00000408860.2:p.Arg125Cys | |
| ENST00000435122.3:c.283C>T | ENSP00000415043.2:p.Arg95Cys | |
| ENST00000464325.5:n.294C>T | ||
| ENST00000466779.5:c.*65C>T | ENSP00000417321.1:n.*65C>T | |
| ENST00000466879.5:n.424C>T | ||
| ENST00000469053.5:c.*65C>T | ENSP00000418104.1:n.*65C>T | |
| ENST00000471671.4:c.373C>T | ENSP00000418561.1:p.Arg125Cys | |
| ENST00000478281.5:c.406C>T | ENSP00000419572.1:p.Arg136Cys | |
| ENST00000479074.5:n.431C>T | ||
| ENST00000479730.5:n.528C>T | ||
| ENST00000483041.5:n.542C>T | ||
| ENST00000486063.5:n.553C>T | ||
| ENST00000488465.1:n.381C>T | ||
| NM_000500.7:c.373C>T | NP_000491.4:p.Arg125Cys | |
| NM_001128590.3:c.283C>T | NP_001122062.3:p.Arg95Cys | |
| XM_011514314.1:c.-33C>T | XP_011512616.1:n.-33C>T | |
| NM_000500.9:c.373C>T MANE Select | NP_000491.4:p.Arg125Cys | |
| NM_001368143.1:c.-33C>T | NP_001355072.1:n.-33C>T | |
| NM_001368144.1:c.-33C>T | NP_001355073.1:n.-33C>T | |
| NM_001128590.4:c.283C>T | NP_001122062.3:p.Arg95Cys | |
| NM_001368143.2:c.-33C>T | NP_001355072.1:n.-33C>T | |
| NM_001368144.2:c.-33C>T | NP_001355073.1:n.-33C>T |