Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12101077C>T , CM000672.2:g.12101077C>T | GRCh38 |
| NC_000010.10:g.12143076C>T , CM000672.1:g.12143076C>T | GRCh37 |
| NC_000010.9:g.12183082C>T | NCBI36 |
| NG_033248.1:g.37161C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.1792C>T MANE Select | NP_061176.4:p.Arg598Cys |
| ENST00000263035.9:c.1792C>T MANE Select | ENSP00000263035.4:p.Arg598Cys |
| NM_018706.6:c.1792C>T | NP_061176.3:p.Arg598Cys |
| ENST00000263035.8:c.1792C>T | ENSP00000263035.4:p.Arg598Cys |
| ENST00000448829.1:c.446C>T |