Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271318C>T , CM000668.2:g.31271318C>T | GRCh38 |
| NC_000006.11:g.31239095C>T , CM000668.1:g.31239095C>T | GRCh37 |
| NC_000006.10:g.31347074C>T | NCBI36 |
| NG_029422.2:g.5814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.374G>A MANE Select | ENSP00000365402.5:p.Cys125Tyr | |
| ENST00000376228.9:c.374G>A | ENSP00000365402.5:p.Cys125Tyr | |
| ENST00000376237.8:c.357G>A | ENSP00000365412.4:p.Leu119= | |
| ENST00000383329.7:c.374G>A | ENSP00000372819.3:p.Cys125Tyr | |
| ENST00000415537.1:c.372G>A | ||
| ENST00000484378.1:n.643G>A | ||
| ENST00000487245.5:n.733G>A | ||
| ENST00000495835.1:n.563G>A | ||
| NM_002117.5:c.374G>A | NP_002108.4:p.Cys125Tyr | |
| NM_002117.6:c.374G>A MANE Select | NP_002108.4:p.Cys125Tyr |