Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269493A= , CM000668.2:g.31269493A= | GRCh38 |
| NC_000006.11:g.31237270A= , CM000668.1:g.31237270A= | GRCh37 |
| NC_000006.10:g.31345249A= | NCBI36 |
| NG_029422.2:g.7639T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1048T= MANE Select | ENSP00000365402.5:p.Cys350= | |
| ENST00000376228.9:c.1048T= | ENSP00000365402.5:p.Cys350= | |
| ENST00000376237.8:c.*635T= | ENSP00000365412.4:n.*635T= | |
| ENST00000383329.7:c.1066T= | ENSP00000372819.3:p.Cys356= | |
| ENST00000466892.5:n.174T= | ||
| ENST00000470363.5:n.806T= | ||
| ENST00000487245.5:n.1407T= | ||
| NM_002117.5:c.1048T= | NP_002108.4:p.Cys350= | |
| NM_002117.6:c.1048T= MANE Select | NP_002108.4:p.Cys350= |