Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268846A>C , CM000668.2:g.31268846A>C | GRCh38 |
| NC_000006.11:g.31236623A>C , CM000668.1:g.31236623A>C | GRCh37 |
| NC_000006.10:g.31344602A>C | NCBI36 |
| NG_029422.2:g.8286T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*323T>G MANE Select | ENSP00000365402.5:n.*323T>G | |
| ENST00000376228.9:c.*323T>G | ENSP00000365402.5:n.*323T>G | |
| ENST00000376237.8:c.*1011T>G | ENSP00000365412.4:n.*1011T>G | |
| ENST00000383329.7:c.*323T>G | ENSP00000372819.3:n.*323T>G | |
| ENST00000466892.5:n.657T>G | ||
| ENST00000470363.5:n.1182T>G | ||
| ENST00000487245.5:n.1783T>G | ||
| NM_002117.5:c.*323T>G | NP_002108.4:n.*323T>G | |
| NM_002117.6:c.*323T>G MANE Select | NP_002108.4:n.*323T>G |