Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175441539G>C , CM000667.2:g.175441539G>C | GRCh38 |
| NC_000005.9:g.174868542G>C , CM000667.1:g.174868542G>C | GRCh37 |
| NC_000005.8:g.174801148G>C | NCBI36 |
| NG_011802.1:g.7622C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393752.3:c.*220C>G MANE Select | ENSP00000377353.1:n.*220C>G | |
| ENST00000393752.2:c.*220C>G | ENSP00000377353.1:n.*220C>G | |
| NM_000794.3:c.*220C>G | NP_000785.1:n.*220C>G | |
| NM_000794.4:c.*220C>G | NP_000785.1:n.*220C>G | |
| NM_000794.5:c.*220C>G MANE Select | NP_000785.1:n.*220C>G |