Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.132571193G= , CM000668.2:g.132571193G= | GRCh38 |
| NC_000006.11:g.132892332G= , CM000668.1:g.132892332G= | GRCh37 |
| NC_000006.10:g.132934025G= | NCBI36 |
| NG_016544.1:g.5872G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_175067.1:c.872G= MANE Select | NP_778237.1:p.Cys291= |
| ENST00000275198.1:c.872G= MANE Select | ENSP00000275198.1:p.Cys291= |