Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268960A>C , CM000668.2:g.31268960A>C | GRCh38 |
| NC_000006.11:g.31236737A>C , CM000668.1:g.31236737A>C | GRCh37 |
| NC_000006.10:g.31344716A>C | NCBI36 |
| NG_029422.2:g.8172T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*209T>G MANE Select | ENSP00000365402.5:n.*209T>G | |
| ENST00000376228.9:c.*209T>G | ENSP00000365402.5:n.*209T>G | |
| ENST00000376237.8:c.*897T>G | ENSP00000365412.4:n.*897T>G | |
| ENST00000383329.7:c.*209T>G | ENSP00000372819.3:n.*209T>G | |
| ENST00000466892.5:n.543T>G | ||
| ENST00000470363.5:n.1068T>G | ||
| ENST00000487245.5:n.1669T>G | ||
| NM_002117.5:c.*209T>G | NP_002108.4:n.*209T>G | |
| NM_002117.6:c.*209T>G MANE Select | NP_002108.4:n.*209T>G |