Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340275C>A , CM000667.2:g.146340275C>A | GRCh38 |
| NC_000005.9:g.145719838C>A , CM000667.1:g.145719838C>A | GRCh37 |
| NC_000005.8:g.145700031C>A | NCBI36 |
| NG_011885.1:g.6252C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002700.3:c.848C>A MANE Select | NP_002691.1:p.Ala283Glu |
| ENST00000646991.2:c.848C>A MANE Select | ENSP00000495718.1:p.Ala283Glu |
| NM_002700.2:c.848C>A | NP_002691.1:p.Ala283Glu |
| ENST00000230732.4:c.848C>A | ENSP00000230732.4:p.Ala283Glu |