Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232480203A= , CM000664.2:g.232480203A= | GRCh38 |
| NC_000002.11:g.233344913A= , CM000664.1:g.233344913A= | GRCh37 |
| NC_000002.10:g.233053157A= | NCBI36 |
| NG_034065.1:g.12657T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004826.4:c.2278T= MANE Select | NP_004817.2:p.Cys760= |
| ENST00000304546.6:c.2278T= MANE Select | ENSP00000302051.1:p.Cys760= |
| NM_001290787.1:c.2272T= | NP_001277716.1:p.Cys758= |
| NM_001290787.2:c.2272T= | NP_001277716.1:p.Cys758= |
| NM_004826.3:c.2278T= | NP_004817.2:p.Cys760= |
| ENST00000304546.5:c.2278T= | ENSP00000302051.1:p.Cys760= |
| ENST00000409941.1:c.2272T= | ENSP00000386333.1:p.Cys758= |
| ENST00000411860.5:c.457T= | ENSP00000412683.1:p.Cys153= |
| ENST00000482346.1:n.2589T= |