Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101232901C>A , CM000665.2:g.101232901C>A | GRCh38 |
| NC_000003.11:g.100951745C>A , CM000665.1:g.100951745C>A | GRCh37 |
| NC_000003.10:g.102434435C>A | NCBI36 |
| NG_028284.1:g.92675G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.3113G>T MANE Select | NP_057331.2:p.Cys1038Phe |
| ENST00000193391.8:c.3113G>T MANE Select | ENSP00000193391.6:p.Cys1038Phe |
| NM_016247.3:c.3113G>T | NP_057331.2:p.Cys1038Phe |
| ENST00000193391.7:c.3113G>T | ENSP00000193391.6:p.Cys1038Phe |
| XM_011512871.1:c.2819G>T | XP_011511173.1:p.Cys940Phe |
| XM_011512872.1:c.2702G>T | XP_011511174.1:p.Cys901Phe |