Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981620G= , CM000674.2:g.48981620G= | GRCh38 |
| NC_000012.11:g.49375403G= , CM000674.1:g.49375403G= | GRCh37 |
| NC_000012.10:g.47661670G= | NCBI36 |
| NG_033141.1:g.8168G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.1093G= MANE Select | ENSP00000293549.3:p.Val365= | |
| ENST00000293549.3:c.1093G= | ENSP00000293549.3:p.Val365= | |
| ENST00000613114.4:c.1060G= | ENSP00000481240.1:p.Val354= | |
| NM_005430.3:c.1093G= | NP_005421.1:p.Val365= | |
| NM_005430.4:c.1093G= MANE Select | NP_005421.1:p.Val365= |