Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57436656C>T , CM000680.2:g.57436656C>T | GRCh38 |
| NC_000018.9:g.55103888C>T , CM000680.1:g.55103888C>T | GRCh37 |
| NC_000018.8:g.53254886C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004852.3:c.940C>T MANE Select | NP_004843.2:p.Arg314Trp |
| ENST00000491143.3:c.940C>T MANE Select | ENSP00000419185.2:p.Arg314Trp |
| NM_004852.2:c.940C>T | NP_004843.2:p.Arg314Trp |
| ENST00000491143.2:c.940C>T | ENSP00000419185.2:p.Arg314Trp |