Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14892029G= , CM000673.2:g.14892029G= | GRCh38 |
| NC_000011.9:g.14913575G= , CM000673.1:g.14913575G= | GRCh37 |
| NC_000011.8:g.14870151G= | NCBI36 |
| NG_007936.1:g.5177C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024514.5:c.177C= MANE Select | NP_078790.2:p.Ser59= |
| ENST00000334636.10:c.177C= MANE Select | ENSP00000334592.5:p.Ser59= |
| NM_001400558.1:c.-121+336C= | NP_001387487.1:n.-121+336C= |
| NM_024514.4:c.177C= | NP_078790.2:p.Ser59= |
| ENST00000334636.9:c.177C= | ENSP00000334592.5:p.Ser59= |
| XM_011519898.1:c.-121+336C= | XP_011518200.1:n.-121+336C= |
| XM_011519898.3:c.-121+336C= | XP_011518200.1:n.-121+336C= |
| XR_242777.2:n.230C= | |
| XR_242777.3:n.230C= |