Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109272630A>G , CM000663.2:g.109272630A>G | GRCh38 |
| NC_000001.10:g.109815252A>G , CM000663.1:g.109815252A>G | GRCh37 |
| NC_000001.9:g.109616775A>G | NCBI36 |
| NG_052669.1:g.27926A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001408.3:c.8055-10A>G MANE Select | NP_001399.1:n.8055-10A>G |
| ENST00000271332.4:c.8055-10A>G MANE Select | ENSP00000271332.3:n.8055-10A>G |
| NM_001408.2:c.8055-10A>G | NP_001399.1:n.8055-10A>G |
| ENST00000271332.3:c.8055-10A>G | ENSP00000271332.3:n.8055-10A>G |
| ENST00000489018.1:n.1971A>G | |
| ENST00000498157.1:n.851-10A>G | |
| XM_005270580.3:c.8055-10A>G | XP_005270637.1:n.8055-10A>G |