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