Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15440388G>A , CM000663.2:g.15440388G>A | GRCh38 |
| NC_000001.10:g.15766884G>A , CM000663.1:g.15766884G>A | GRCh37 |
| NC_000001.9:g.15639471G>A | NCBI36 |
| NG_009253.1:g.6947G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.129G>A MANE Select | NP_009203.2:p.Trp43Ter |
| ENST00000375949.5:c.129G>A MANE Select | ENSP00000365116.4:p.Trp43Ter |
| NM_007272.2:c.129G>A | NP_009203.2:p.Trp43Ter |
| ENST00000375943.6:c.40+1884G>A | ENSP00000365110.2:n.40+1884G>A |
| ENST00000375949.4:c.129G>A | ENSP00000365116.4:p.Trp43Ter |
| ENST00000476813.5:n.52+1884G>A | |
| ENST00000483406.1:n.39G>A | |
| XM_011540550.1:c.129G>A | XP_011538852.1:p.Trp43Ter |