Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22120823A>C , CM000663.2:g.22120823A>C | GRCh38 |
| NC_000001.10:g.22447316A>C , CM000663.1:g.22447316A>C | GRCh37 |
| NC_000001.9:g.22319903A>C | NCBI36 |
| NG_008974.1:g.27204T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290167.11:c.589-306T>G MANE Select | ENSP00000290167.5:n.589-306T>G | |
| ENST00000290167.10:c.589-306T>G | ENSP00000290167.5:n.589-306T>G | |
| NM_030761.4:c.589-306T>G | NP_110388.2:n.589-306T>G | |
| XM_011541597.1:c.655-306T>G | XP_011539899.1:n.655-306T>G | |
| XM_011541598.1:c.424-306T>G | XP_011539900.1:n.424-306T>G | |
| XM_011541597.2:c.655-306T>G | XP_011539899.1:n.655-306T>G | |
| XM_011541598.2:c.424-306T>G | XP_011539900.1:n.424-306T>G | |
| NM_030761.5:c.589-306T>G MANE Select | NP_110388.2:n.589-306T>G |