Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42687923A= , CM000679.2:g.42687923A= | GRCh38 |
| NC_000017.10:g.40839941A= , CM000679.1:g.40839941A= | GRCh37 |
| NC_000017.9:g.38093467A= | NCBI36 |
| NG_042091.1:g.10310A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264638.9:c.1248A= MANE Select | ENSP00000264638.3:p.Glu416= | |
| ENST00000264638.8:c.1248A= | ENSP00000264638.3:p.Glu416= | |
| ENST00000586801.1:n.663A= | ||
| ENST00000591662.1:c.1248A= | ENSP00000466571.1:p.Glu416= | |
| NM_003632.2:c.1248A= | NP_003623.1:p.Glu416= | |
| XM_005257748.3:c.1020A= | XP_005257805.1:p.Glu340= | |
| XM_005257748.4:c.1020A= | XP_005257805.1:p.Glu340= | |
| XM_017025238.1:c.1248A= | XP_016880727.1:p.Glu416= | |
| XM_024451011.1:c.1248A= | XP_024306779.1:p.Glu416= | |
| NM_003632.3:c.1248A= MANE Select | NP_003623.1:p.Glu416= |