Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458330C>T , CM000672.2:g.103458330C>T | GRCh38 |
| NC_000010.10:g.105218087C>T , CM000672.1:g.105218087C>T | GRCh37 |
| NC_000010.9:g.105208077C>T | NCBI36 |
| NG_016855.1:g.5562G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329905.6:c.422G>A MANE Select | ENSP00000329926.6:p.Gly141Asp | |
| ENST00000329905.5:c.422G>A | ENSP00000329926.5:p.Gly141Asp | |
| NM_001001412.3:c.422G>A | NP_001001412.3:p.Gly141Asp | |
| NM_001001412.4:c.422G>A MANE Select | NP_001001412.3:p.Gly141Asp |