Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270013A>G , CM000668.2:g.31270013A>G | GRCh38 |
| NC_000006.11:g.31237790A>G , CM000668.1:g.31237790A>G | GRCh37 |
| NC_000006.10:g.31345769A>G | NCBI36 |
| NG_029422.2:g.7119T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.968T>C MANE Select | ENSP00000365402.5:p.Val323Ala | |
| ENST00000376228.9:c.968T>C | ENSP00000365402.5:p.Val323Ala | |
| ENST00000376237.8:c.*555T>C | ENSP00000365412.4:n.*555T>C | |
| ENST00000383329.7:c.968T>C | ENSP00000372819.3:p.Val323Ala | |
| ENST00000470363.5:n.286T>C | ||
| ENST00000487245.5:n.1327T>C | ||
| NM_002117.5:c.968T>C | NP_002108.4:p.Val323Ala | |
| NM_002117.6:c.968T>C MANE Select | NP_002108.4:p.Val323Ala |