Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119318723G= , CM000666.2:g.119318723G= | GRCh38 |
| NC_000004.11:g.120239878G= , CM000666.1:g.120239878G= | GRCh37 |
| NC_000004.10:g.120459326G= | NCBI36 |
| NG_011444.1:g.8439C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.*318C= MANE Select | ENSP00000274024.3:n.*318C= | |
| ENST00000274024.3:c.*318C= | ENSP00000274024.3:n.*318C= | |
| NM_000134.3:c.*318C= | NP_000125.2:n.*318C= | |
| NM_000134.4:c.*318C= MANE Select | NP_000125.2:n.*318C= |