Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147903619G>A , CM000669.2:g.147903619G>A | GRCh38 |
| NC_000007.13:g.147600711G>A , CM000669.1:g.147600711G>A | GRCh37 |
| NC_000007.12:g.147231644G>A | NCBI36 |
| NG_007092.2:g.1792259G>A | |
| NG_007092.3:g.1792619G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.2153G>A MANE Select | NP_054860.1:p.Trp718Ter |
| ENST00000361727.8:c.2153G>A MANE Select | ENSP00000354778.3:p.Trp718Ter |
| NM_014141.5:c.2153G>A | NP_054860.1:p.Trp718Ter |
| ENST00000361727.7:c.2153G>A | ENSP00000354778.3:p.Trp718Ter |
| ENST00000455301.2:n.88G>A | |
| ENST00000627772.2:n.326G>A | |
| ENST00000636755.1:n.100G>A | |
| ENST00000636870.1:n.2015G>A | |
| ENST00000637825.1:n.1636G>A | |
| XM_006715919.1:c.641G>A | XP_006715982.1:p.Trp214Ter |