Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154109G= , CM000681.2:g.55154109G= | GRCh38 |
| NC_000019.9:g.55665477G= , CM000681.1:g.55665477G= | GRCh37 |
| NC_000019.8:g.60357289G= | NCBI36 |
| NG_007866.2:g.8624C= , LRG_432:g.8624C= | |
| NG_011829.2:g.130C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.470C= MANE Select | ENSP00000341838.5:p.Ala157= | |
| ENST00000665070.1:c.503C= | ENSP00000499482.1:p.Ala168= | |
| ENST00000344887.9:c.470C= | ENSP00000341838.5:p.Ala157= | |
| ENST00000585806.5:n.469C= | ||
| ENST00000588882.1:c.395C= | ENSP00000466729.1:p.Ala132= | |
| ENST00000589864.1:n.298C= | ||
| NM_000363.4:c.470C= , LRG_432t1:c.470C= | NP_000354.4:p.Ala157= | |
| NM_000363.5:c.470C= MANE Select | NP_000354.4:p.Ala157= |