Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981590G>T , CM000674.2:g.48981590G>T | GRCh38 |
| NC_000012.11:g.49375373G>T , CM000674.1:g.49375373G>T | GRCh37 |
| NC_000012.10:g.47661640G>T | NCBI36 |
| NG_033141.1:g.8138G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005430.4:c.1063G>T MANE Select | NP_005421.1:p.Val355Phe |
| ENST00000293549.4:c.1063G>T MANE Select | ENSP00000293549.3:p.Val355Phe |
| NM_005430.3:c.1063G>T | NP_005421.1:p.Val355Phe |
| ENST00000293549.3:c.1063G>T | ENSP00000293549.3:p.Val355Phe |
| ENST00000613114.4:c.1030G>T | ENSP00000481240.1:p.Val344Phe |