Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270012G>A , CM000668.2:g.31270012G>A | GRCh38 |
| NC_000006.11:g.31237789G>A , CM000668.1:g.31237789G>A | GRCh37 |
| NC_000006.10:g.31345768G>A | NCBI36 |
| NG_029422.2:g.7120C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.969C>T MANE Select | ENSP00000365402.5:p.Val323= | |
| ENST00000376228.9:c.969C>T | ENSP00000365402.5:p.Val323= | |
| ENST00000376237.8:c.*556C>T | ENSP00000365412.4:n.*556C>T | |
| ENST00000383329.7:c.969C>T | ENSP00000372819.3:p.Val323= | |
| ENST00000470363.5:n.287C>T | ||
| ENST00000487245.5:n.1328C>T | ||
| NM_002117.5:c.969C>T | NP_002108.4:p.Val323= | |
| NM_002117.6:c.969C>T MANE Select | NP_002108.4:p.Val323= |