Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269501T>C , CM000668.2:g.31269501T>C | GRCh38 |
| NC_000006.11:g.31237278T>C , CM000668.1:g.31237278T>C | GRCh37 |
| NC_000006.10:g.31345257T>C | NCBI36 |
| NG_029422.2:g.7631A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1040A>G MANE Select | ENSP00000365402.5:p.Gln347Arg | |
| ENST00000376228.9:c.1040A>G | ENSP00000365402.5:p.Gln347Arg | |
| ENST00000376237.8:c.*627A>G | ENSP00000365412.4:n.*627A>G | |
| ENST00000383329.7:c.1058A>G | ENSP00000372819.3:p.Gln353Arg | |
| ENST00000466892.5:n.166A>G | ||
| ENST00000470363.5:n.798A>G | ||
| ENST00000487245.5:n.1399A>G | ||
| NM_002117.5:c.1040A>G | NP_002108.4:p.Gln347Arg | |
| NM_002117.6:c.1040A>G MANE Select | NP_002108.4:p.Gln347Arg |