Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101304275A>T , CM000665.2:g.101304275A>T | GRCh38 |
| NC_000003.11:g.101023119A>T , CM000665.1:g.101023119A>T | GRCh37 |
| NC_000003.10:g.102505809A>T | NCBI36 |
| NG_028284.1:g.21301T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.372T>A MANE Select | NP_057331.2:p.Phe124Leu |
| ENST00000193391.8:c.372T>A MANE Select | ENSP00000193391.6:p.Phe124Leu |
| NM_016247.3:c.372T>A | NP_057331.2:p.Phe124Leu |
| ENST00000193391.7:c.372T>A | ENSP00000193391.6:p.Phe124Leu |
| XM_011512871.1:c.78T>A | XP_011511173.1:p.Phe26Leu |
| XM_011512872.1:c.-40T>A | XP_011511174.1:n.-40T>A |