Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101273664G>A , CM000665.2:g.101273664G>A | GRCh38 |
| NC_000003.11:g.100992508G>A , CM000665.1:g.100992508G>A | GRCh37 |
| NC_000003.10:g.102475198G>A | NCBI36 |
| NG_028284.1:g.51912C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.745C>T MANE Select | NP_057331.2:p.Leu249Phe |
| ENST00000193391.8:c.745C>T MANE Select | ENSP00000193391.6:p.Leu249Phe |
| NM_016247.3:c.745C>T | NP_057331.2:p.Leu249Phe |
| ENST00000193391.7:c.745C>T | ENSP00000193391.6:p.Leu249Phe |
| XM_011512871.1:c.451C>T | XP_011511173.1:p.Leu151Phe |
| XM_011512872.1:c.334C>T | XP_011511174.1:p.Leu112Phe |