Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65869945G>A , CM000673.2:g.65869945G>A | GRCh38 |
| NC_000011.9:g.65637416G>A , CM000673.1:g.65637416G>A | GRCh37 |
| NC_000011.8:g.65393992G>A | NCBI36 |
| NG_012304.2:g.7990C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016938.5:c.639C>T MANE Select | NP_058634.4:p.Cys213= |
| ENST00000307998.11:c.639C>T MANE Select | ENSP00000309953.6:p.Cys213= |
| NM_016938.4:c.639C>T | NP_058634.4:p.Cys213= |
| NR_037718.1:n.898C>T | |
| NR_037718.2:n.764C>T | |
| ENST00000307998.10:c.639C>T | ENSP00000309953.6:p.Cys213= |
| ENST00000527969.1:n.616C>T | |
| ENST00000528176.5:c.639C>T | ENSP00000434151.1:p.Cys213= |
| ENST00000531005.5:n.1633C>T | |
| ENST00000531972.5:c.639C>T | ENSP00000435295.1:p.Cys213= |
| ENST00000533347.5:c.*451C>T | ENSP00000435823.1:n.*451C>T |