Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270353T>G , CM000668.2:g.31270353T>G | GRCh38 |
| NC_000006.11:g.31238130T>G , CM000668.1:g.31238130T>G | GRCh37 |
| NC_000006.10:g.31346109T>G | NCBI36 |
| NG_029422.2:g.6779A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.752A>C MANE Select | ENSP00000365402.5:p.Asp251Ala | |
| ENST00000376228.9:c.752A>C | ENSP00000365402.5:p.Asp251Ala | |
| ENST00000376237.8:c.*339A>C | ENSP00000365412.4:n.*339A>C | |
| ENST00000383329.7:c.752A>C | ENSP00000372819.3:p.Asp251Ala | |
| ENST00000415537.1:c.665-22A>C | ||
| ENST00000470363.5:n.70A>C | ||
| ENST00000487245.5:n.1111A>C | ||
| ENST00000495835.1:n.941A>C | ||
| NM_002117.5:c.752A>C | NP_002108.4:p.Asp251Ala | |
| NM_002117.6:c.752A>C MANE Select | NP_002108.4:p.Asp251Ala |