Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231532T>A , CM000672.2:g.68231532T>A | GRCh38 |
| NC_000010.10:g.69991289T>A , CM000672.1:g.69991289T>A | GRCh37 |
| NC_000010.9:g.69661295T>A | NCBI36 |
| NG_031934.1:g.5582A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.146A>T MANE Select | ENSP00000362777.3:p.Glu49Val | |
| ENST00000373673.4:c.146A>T | ENSP00000362777.3:p.Glu49Val | |
| NM_145178.3:c.146A>T | NP_660161.1:p.Glu49Val | |
| NM_145178.4:c.146A>T MANE Select | NP_660161.1:p.Glu49Val |