Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129533692G>A , CM000665.2:g.129533692G>A | GRCh38 |
| NC_000003.11:g.129252535G>A , CM000665.1:g.129252535G>A | GRCh37 |
| NC_000003.10:g.130735225G>A | NCBI36 |
| NG_009115.1:g.10054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.1021G>A MANE Select | ENSP00000296271.3:p.Glu341Lys | |
| ENST00000296271.3:c.1021G>A | ENSP00000296271.3:p.Glu341Lys | |
| NM_000539.3:c.1021G>A MANE Select | NP_000530.1:p.Glu341Lys |