Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12120238C>G , CM000672.2:g.12120238C>G | GRCh38 |
| NC_000010.10:g.12162237C>G , CM000672.1:g.12162237C>G | GRCh37 |
| NC_000010.9:g.12202243C>G | NCBI36 |
| NG_033248.1:g.56322C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.2629C>G MANE Select | ENSP00000263035.4:p.Pro877Ala | |
| ENST00000263035.8:c.2629C>G | ENSP00000263035.4:p.Pro877Ala | |
| ENST00000479283.1:n.197C>G | ||
| NM_018706.6:c.2629C>G | NP_061176.3:p.Pro877Ala | |
| NM_018706.7:c.2629C>G MANE Select | NP_061176.4:p.Pro877Ala |