Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52646783C>T , CM000674.2:g.52646783C>T | GRCh38 |
| NC_000012.11:g.53040567C>T , CM000674.1:g.53040567C>T | GRCh37 |
| NC_000012.10:g.51326834C>T | NCBI36 |
| NG_008296.1:g.10393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.1426G>A MANE Select | ENSP00000310861.3:p.Glu476Lys | |
| ENST00000309680.3:c.1426G>A | ENSP00000310861.3:p.Glu476Lys | |
| NM_000423.2:c.1426G>A | NP_000414.2:p.Glu476Lys | |
| NM_000423.3:c.1426G>A MANE Select | NP_000414.2:p.Glu476Lys |