Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868557C>T , CM000673.2:g.65868557C>T | GRCh38 |
| NC_000011.9:g.65636028C>T , CM000673.1:g.65636028C>T | GRCh37 |
| NC_000011.8:g.65392604C>T | NCBI36 |
| NG_012304.2:g.9378G>A | |
| NG_053116.1:g.13496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.800G>A MANE Select | ENSP00000309953.6:p.Cys267Tyr | |
| ENST00000307998.10:c.800G>A | ENSP00000309953.6:p.Cys267Tyr | |
| ENST00000526628.5:n.1366G>A | ||
| ENST00000527969.1:n.1485G>A | ||
| ENST00000528176.5:c.800G>A | ENSP00000434151.1:p.Cys267Tyr | |
| ENST00000531005.5:n.1794G>A | ||
| ENST00000531972.5:c.800G>A | ENSP00000435295.1:p.Cys267Tyr | |
| ENST00000532084.5:n.226G>A | ||
| NM_016938.4:c.800G>A | NP_058634.4:p.Cys267Tyr | |
| NR_037718.1:n.1059G>A | ||
| NM_016938.5:c.800G>A MANE Select | NP_058634.4:p.Cys267Tyr | |
| NR_037718.2:n.925G>A |