Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270364G>T , CM000668.2:g.31270364G>T | GRCh38 |
| NC_000006.11:g.31238141G>T , CM000668.1:g.31238141G>T | GRCh37 |
| NC_000006.10:g.31346120G>T | NCBI36 |
| NG_029422.2:g.6768C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.741C>A MANE Select | ENSP00000365402.5:p.Asp247Glu | |
| ENST00000376228.9:c.741C>A | ENSP00000365402.5:p.Asp247Glu | |
| ENST00000376237.8:c.*328C>A | ENSP00000365412.4:n.*328C>A | |
| ENST00000383329.7:c.741C>A | ENSP00000372819.3:p.Asp247Glu | |
| ENST00000415537.1:c.665-33C>A | ||
| ENST00000470363.5:n.59C>A | ||
| ENST00000487245.5:n.1100C>A | ||
| ENST00000495835.1:n.930C>A | ||
| NM_002117.5:c.741C>A | NP_002108.4:p.Asp247Glu | |
| NM_002117.6:c.741C>A MANE Select | NP_002108.4:p.Asp247Glu |