Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458376G>A , CM000672.2:g.103458376G>A | GRCh38 |
| NC_000010.10:g.105218133G>A , CM000672.1:g.105218133G>A | GRCh37 |
| NC_000010.9:g.105208123G>A | NCBI36 |
| NG_016855.1:g.5516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329905.6:c.376C>T MANE Select | ENSP00000329926.6:p.Leu126Phe | |
| ENST00000329905.5:c.376C>T | ENSP00000329926.5:p.Leu126Phe | |
| NM_001001412.3:c.376C>T | NP_001001412.3:p.Leu126Phe | |
| NM_001001412.4:c.376C>T MANE Select | NP_001001412.3:p.Leu126Phe |