Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269983C>T , CM000668.2:g.31269983C>T | GRCh38 |
| NC_000006.11:g.31237760C>T , CM000668.1:g.31237760C>T | GRCh37 |
| NC_000006.10:g.31345739C>T | NCBI36 |
| NG_029422.2:g.7149G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.998G>A MANE Select | NP_002108.4:p.Cys333Tyr |
| ENST00000376228.10:c.998G>A MANE Select | ENSP00000365402.5:p.Cys333Tyr |
| NM_002117.5:c.998G>A | NP_002108.4:p.Cys333Tyr |
| ENST00000376228.9:c.998G>A | ENSP00000365402.5:p.Cys333Tyr |
| ENST00000376237.8:c.*585G>A | ENSP00000365412.4:n.*585G>A |
| ENST00000383329.7:c.998G>A | ENSP00000372819.3:p.Cys333Tyr |
| ENST00000470363.5:n.316G>A | |
| ENST00000487245.5:n.1357G>A |