Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269499C= , CM000668.2:g.31269499C= | GRCh38 |
| NC_000006.11:g.31237276C= , CM000668.1:g.31237276C= | GRCh37 |
| NC_000006.10:g.31345255C= | NCBI36 |
| NG_029422.2:g.7633G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1042G= MANE Select | ENSP00000365402.5:p.Ala348= | |
| ENST00000376228.9:c.1042G= | ENSP00000365402.5:p.Ala348= | |
| ENST00000376237.8:c.*629G= | ENSP00000365412.4:n.*629G= | |
| ENST00000383329.7:c.1060G= | ENSP00000372819.3:p.Ala354= | |
| ENST00000466892.5:n.168G= | ||
| ENST00000470363.5:n.800G= | ||
| ENST00000487245.5:n.1401G= | ||
| NM_002117.5:c.1042G= | NP_002108.4:p.Ala348= | |
| NM_002117.6:c.1042G= MANE Select | NP_002108.4:p.Ala348= |