Linked Data
dbSNP Id:
rs775574170
ExAC:
6:32006181 C / A
gnomAD v2:
6-32006181-C-A
gnomAD v3:
6-32038404-C-A
gnomAD v4:
6-32038404-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038404C>A , CM000668.2:g.32038404C>A | GRCh38 |
| NC_000006.11:g.32006181C>A , CM000668.1:g.32006181C>A | GRCh37 |
| NC_000006.10:g.32114160C>A | NCBI36 |
| NG_007941.2:g.5100C>A | |
| NG_007941.3:g.5100C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418967.6:c.-19C>A | ENSP00000408860.2:n.-19C>A | |
| ENST00000466779.5:c.-19C>A | ENSP00000417321.1:n.-19C>A | |
| ENST00000478281.5:c.-19C>A | ENSP00000419572.1:n.-19C>A | |
| ENST00000479074.5:n.40C>A | ||
| ENST00000479730.5:n.40C>A | ||
| ENST00000480027.1:n.35C>A | ||
| ENST00000483041.5:n.35C>A | ||
| ENST00000486063.5:n.65C>A | ||
| NM_000500.7:c.-19C>A | NP_000491.4:n.-19C>A | |
| NM_001128590.3:c.-19C>A | NP_001122062.3:n.-19C>A | |
| XM_011514314.1:c.-443C>A | XP_011512616.1:n.-443C>A | |
| NM_001368143.1:c.-443C>A | NP_001355072.1:n.-443C>A | |
| NM_001368144.1:c.-353C>A | NP_001355073.1:n.-353C>A |