Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270419G>T , CM000668.2:g.31270419G>T | GRCh38 |
| NC_000006.11:g.31238196G>T , CM000668.1:g.31238196G>T | GRCh37 |
| NC_000006.10:g.31346175G>T | NCBI36 |
| NG_029422.2:g.6713C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.686C>A MANE Select | ENSP00000365402.5:p.Ala229Asp | |
| ENST00000376228.9:c.686C>A | ENSP00000365402.5:p.Ala229Asp | |
| ENST00000376237.8:c.*273C>A | ENSP00000365412.4:n.*273C>A | |
| ENST00000383329.7:c.686C>A | ENSP00000372819.3:p.Ala229Asp | |
| ENST00000415537.1:c.664+20C>A | ||
| ENST00000470363.5:n.4C>A | ||
| ENST00000487245.5:n.1045C>A | ||
| ENST00000495835.1:n.875C>A | ||
| NM_002117.5:c.686C>A | NP_002108.4:p.Ala229Asp | |
| NM_002117.6:c.686C>A MANE Select | NP_002108.4:p.Ala229Asp |