Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551604C= , CM000681.2:g.43551604C= | GRCh38 |
| NC_000019.9:g.44055756C= , CM000681.1:g.44055756C= | GRCh37 |
| NC_000019.8:g.48747596C= | NCBI36 |
| NG_033799.1:g.28975G= , LRG_784:g.28975G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1166G= MANE Select | ENSP00000262887.5:p.Cys389= | |
| ENST00000262887.9:c.1166G= | ENSP00000262887.4:p.Cys389= | |
| ENST00000543982.5:c.1073G= | ENSP00000443671.1:p.Cys358= | |
| ENST00000597811.5:c.776G= | ||
| NM_006297.2:c.1166G= , LRG_784t1:c.1166G= | NP_006288.2:p.Cys389= | |
| NM_006297.3:c.1166G= MANE Select | NP_006288.2:p.Cys389= |