Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527524C= , CM000681.2:g.7527524C= | GRCh38 |
| NC_000019.9:g.7592410C= , CM000681.1:g.7592410C= | GRCh37 |
| NC_000019.8:g.7498410C= | NCBI36 |
| NG_015806.1:g.9915C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.576C= MANE Select | ENSP00000264079.5:p.Cys192= | |
| ENST00000264079.10:c.576C= | ENSP00000264079.5:p.Cys192= | |
| ENST00000394321.9:n.656C= | ||
| ENST00000598406.1:n.397C= | ||
| ENST00000601003.1:c.572-340C= | ENSP00000469074.1:n.572-340C= | |
| NM_020533.2:c.576C= | NP_065394.1:p.Cys192= | |
| NM_020533.3:c.576C= MANE Select | NP_065394.1:p.Cys192= |