Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84817410G>A , CM000677.2:g.84817410G>A | GRCh38 |
| NC_000015.9:g.85360641G>A , CM000677.1:g.85360641G>A | GRCh37 |
| NC_000015.8:g.83161645G>A | NCBI36 |
| NG_054748.1:g.5780G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.-43G>A MANE Select | ENSP00000258888.6:n.-43G>A | |
| ENST00000258888.5:c.564G>A | ENSP00000258888.5:p.Glu188= | |
| NM_020778.4:c.564G>A | NP_065829.3:p.Glu188= | |
| NM_020778.5:c.-43G>A MANE Select | NP_065829.4:n.-43G>A |