Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52646748C>A , CM000674.2:g.52646748C>A | GRCh38 |
| NC_000012.11:g.53040532C>A , CM000674.1:g.53040532C>A | GRCh37 |
| NC_000012.10:g.51326799C>A | NCBI36 |
| NG_008296.1:g.10428G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.1461G>T MANE Select | ENSP00000310861.3:p.Glu487Asp | |
| ENST00000309680.3:c.1461G>T | ENSP00000310861.3:p.Glu487Asp | |
| NM_000423.2:c.1461G>T | NP_000414.2:p.Glu487Asp | |
| NM_000423.3:c.1461G>T MANE Select | NP_000414.2:p.Glu487Asp |