Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147903619G= , CM000669.2:g.147903619G= | GRCh38 |
| NC_000007.13:g.147600711G= , CM000669.1:g.147600711G= | GRCh37 |
| NC_000007.12:g.147231644G= | NCBI36 |
| NG_007092.2:g.1792259G= | |
| NG_007092.3:g.1792619G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.2153G= MANE Select | NP_054860.1:p.Trp718= |
| ENST00000361727.8:c.2153G= MANE Select | ENSP00000354778.3:p.Trp718= |
| NM_014141.5:c.2153G= | NP_054860.1:p.Trp718= |
| ENST00000361727.7:c.2153G= | ENSP00000354778.3:p.Trp718= |
| ENST00000455301.2:n.88G= | |
| ENST00000627772.2:n.326G= | |
| ENST00000636755.1:n.100G= | |
| ENST00000636870.1:n.2015G= | |
| ENST00000637825.1:n.1636G= | |
| XM_006715919.1:c.641G= | XP_006715982.1:p.Trp214= |