Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811813A>G , CM000663.2:g.192811813A>G | GRCh38 |
| NC_000001.10:g.192780943A>G , CM000663.1:g.192780943A>G | GRCh37 |
| NC_000001.9:g.191047566A>G | NCBI36 |
| NG_012800.1:g.7775A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*217A>G MANE Select | ENSP00000235382.5:n.*217A>G | |
| ENST00000235382.6:c.*217A>G | ENSP00000235382.5:n.*217A>G | |
| NM_002923.3:c.*217A>G | NP_002914.1:n.*217A>G | |
| NM_002923.4:c.*217A>G MANE Select | NP_002914.1:n.*217A>G |