Linked Data
dbSNP Id:
rs1350521599
gnomAD v2:
6-32006125-G-A
gnomAD v3:
6-32038348-G-A
gnomAD v4:
6-32038348-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038348G>A , CM000668.2:g.32038348G>A | GRCh38 |
| NC_000006.11:g.32006125G>A , CM000668.1:g.32006125G>A | GRCh37 |
| NC_000006.10:g.32114104G>A | NCBI36 |
| NG_007941.2:g.5044G>A | |
| NG_007941.3:g.5044G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418967.6:c.-75G>A | ENSP00000408860.2:n.-75G>A | |
| ENST00000466779.5:c.-75G>A | ENSP00000417321.1:n.-75G>A | |
| ENST00000486063.5:n.9G>A | ||
| NM_000500.7:c.-75G>A | NP_000491.4:n.-75G>A | |
| NM_001128590.3:c.-75G>A | NP_001122062.3:n.-75G>A | |
| NM_001368143.1:c.-499G>A | NP_001355072.1:n.-499G>A | |
| NM_001368144.1:c.-409G>A | NP_001355073.1:n.-409G>A |