Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.38318340C= , CM000674.2:g.38318340C= | GRCh38 |
| NC_000012.11:g.38712142C= , CM000674.1:g.38712142C= | GRCh37 |
| NC_000012.10:g.36998409C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001013620.4:c.251C= MANE Select | NP_001013642.2:p.Ala84= |
| ENST00000308742.9:c.251C= MANE Select | ENSP00000310120.4:p.Ala84= |
| NM_001308340.2:c.251C= | NP_001295269.2:p.Ala84= |
| ENST00000308742.8:c.251C= | ENSP00000310120.4:p.Ala84= |
| ENST00000548240.1:c.225C= | ENSP00000449210.1:p.Cys75= |
| ENST00000551464.1:c.251C= | ENSP00000448819.1:p.Ala84= |
| ENST00000553138.1:n.1574C= | |
| XM_005268665.3:c.71C= | XP_005268722.1:p.Ala24= |
| XM_005268665.4:c.71C= | XP_005268722.1:p.Ala24= |
| XM_006719243.2:c.71C= | XP_006719306.1:p.Ala24= |