Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12087588C>T , CM000672.2:g.12087588C>T | GRCh38 |
| NC_000010.10:g.12129587C>T , CM000672.1:g.12129587C>T | GRCh37 |
| NC_000010.9:g.12169593C>T | NCBI36 |
| NG_033248.1:g.23672C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.576C>T MANE Select | NP_061176.4:p.Gly192= |
| ENST00000263035.9:c.576C>T MANE Select | ENSP00000263035.4:p.Gly192= |
| NM_018706.6:c.576C>T | NP_061176.3:p.Gly192= |
| ENST00000263035.8:c.576C>T | ENSP00000263035.4:p.Gly192= |
| ENST00000437298.1:c.523-1398C>T | ENSP00000388163.1:n.523-1398C>T |
| ENST00000465617.1:n.158C>T |