Linked Data
dbSNP Id:
rs576909665
gnomAD v2:
9-132967218-G-A
gnomAD v3:
9-130204939-G-A
gnomAD v4:
9-130204939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130204939G>A , CM000671.2:g.130204939G>A | GRCh38 |
| NC_000009.11:g.132967218G>A , CM000671.1:g.132967218G>A | GRCh37 |
| NC_000009.10:g.132007039G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372398.6:c.89+3957G>A MANE Select | ENSP00000361475.3:n.89+3957G>A | |
| ENST00000372398.5:c.89+3957G>A | ENSP00000361475.3:n.89+3957G>A | |
| ENST00000493042.1:n.143+3957G>A | ||
| ENST00000630865.1:c.35+3957G>A | ENSP00000486695.1:n.35+3957G>A | |
| NM_001128826.1:c.35+3957G>A | NP_001122298.1:n.35+3957G>A | |
| NM_014286.3:c.89+3957G>A | NP_055101.2:n.89+3957G>A | |
| NM_014286.4:c.89+3957G>A MANE Select | NP_055101.2:n.89+3957G>A | |
| NM_001128826.2:c.35+3957G>A | NP_001122298.1:n.35+3957G>A |