Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445661T>A , CM000663.2:g.15445661T>A | GRCh38 |
| NC_000001.10:g.15772156T>A , CM000663.1:g.15772156T>A | GRCh37 |
| NC_000001.9:g.15644743T>A | NCBI36 |
| NG_009253.1:g.12219T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.704T>A MANE Select | ENSP00000365116.4:p.Val235Asp | |
| ENST00000375943.6:c.*158T>A | ENSP00000365110.2:n.*158T>A | |
| ENST00000375949.4:c.704T>A | ENSP00000365116.4:p.Val235Asp | |
| ENST00000483406.1:n.468T>A | ||
| NM_007272.2:c.704T>A | NP_009203.2:p.Val235Asp | |
| XM_011540550.1:c.558T>A | XP_011538852.1:p.Arg186= | |
| NM_007272.3:c.704T>A MANE Select | NP_009203.2:p.Val235Asp |