Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58197909G= , CM000665.2:g.58197909G= | GRCh38 |
| NC_000003.11:g.58183636G= , CM000665.1:g.58183636G= | GRCh37 |
| NC_000003.10:g.58158676G= | NCBI36 |
| NG_032070.1:g.18095C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394549.7:c.616C= MANE Select | ENSP00000378053.2:p.Arg206= | |
| ENST00000394549.6:c.616C= | ENSP00000378053.2:p.Arg206= | |
| ENST00000477209.5:c.238C= | ENSP00000417976.1:p.Arg80= | |
| ENST00000483681.5:c.616C= | ENSP00000417047.1:p.Arg206= | |
| ENST00000486455.5:c.526C= | ENSP00000419052.1:p.Arg176= | |
| NM_001256560.1:c.526C= | NP_001243489.1:p.Arg176= | |
| NM_004944.3:c.616C= | NP_004935.1:p.Arg206= | |
| NM_004944.4:c.616C= MANE Select | NP_004935.1:p.Arg206= | |
| NM_001256560.2:c.526C= | NP_001243489.1:p.Arg176= |