Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981590G= , CM000674.2:g.48981590G= | GRCh38 |
| NC_000012.11:g.49375373G= , CM000674.1:g.49375373G= | GRCh37 |
| NC_000012.10:g.47661640G= | NCBI36 |
| NG_033141.1:g.8138G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005430.4:c.1063G= MANE Select | NP_005421.1:p.Val355= |
| ENST00000293549.4:c.1063G= MANE Select | ENSP00000293549.3:p.Val355= |
| NM_005430.3:c.1063G= | NP_005421.1:p.Val355= |
| ENST00000293549.3:c.1063G= | ENSP00000293549.3:p.Val355= |
| ENST00000613114.4:c.1030G= | ENSP00000481240.1:p.Val344= |