Linked Data
dbSNP Id:
rs945278428
gnomAD v2:
6-32006153-C-A
gnomAD v3:
6-32038376-C-A
gnomAD v4:
6-32038376-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038376C>A , CM000668.2:g.32038376C>A | GRCh38 |
| NC_000006.11:g.32006153C>A , CM000668.1:g.32006153C>A | GRCh37 |
| NC_000006.10:g.32114132C>A | NCBI36 |
| NG_007941.2:g.5072C>A | |
| NG_007941.3:g.5072C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418967.6:c.-47C>A | ENSP00000408860.2:n.-47C>A | |
| ENST00000466779.5:c.-47C>A | ENSP00000417321.1:n.-47C>A | |
| ENST00000479074.5:n.12C>A | ||
| ENST00000479730.5:n.12C>A | ||
| ENST00000480027.1:n.7C>A | ||
| ENST00000483041.5:n.7C>A | ||
| ENST00000486063.5:n.37C>A | ||
| NM_000500.7:c.-47C>A | NP_000491.4:n.-47C>A | |
| NM_001128590.3:c.-47C>A | NP_001122062.3:n.-47C>A | |
| XM_011514314.1:c.-471C>A | XP_011512616.1:n.-471C>A | |
| NM_001368143.1:c.-471C>A | NP_001355072.1:n.-471C>A | |
| NM_001368144.1:c.-381C>A | NP_001355073.1:n.-381C>A |