Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458389G>T , CM000672.2:g.103458389G>T | GRCh38 |
| NC_000010.10:g.105218146G>T , CM000672.1:g.105218146G>T | GRCh37 |
| NC_000010.9:g.105208136G>T | NCBI36 |
| NG_016855.1:g.5503C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329905.6:c.363C>A MANE Select | ENSP00000329926.6:p.Asp121Glu | |
| ENST00000329905.5:c.363C>A | ENSP00000329926.5:p.Asp121Glu | |
| NM_001001412.3:c.363C>A | NP_001001412.3:p.Asp121Glu | |
| NM_001001412.4:c.363C>A MANE Select | NP_001001412.3:p.Asp121Glu |