Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101223730C>T , CM000669.2:g.101223730C>T | GRCh38 |
| NC_000007.13:g.100867011C>T , CM000669.1:g.100867011C>T | GRCh37 |
| NC_000007.12:g.100653731C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305105.3:c.331C>T MANE Select | ENSP00000304593.2:p.Arg111Trp | |
| ENST00000305105.2:c.331C>T | ENSP00000304593.2:p.Arg111Trp | |
| ENST00000461205.5:n.528C>T | ||
| ENST00000485387.1:n.2532C>T | ||
| ENST00000492315.5:n.3824C>T | ||
| NM_006349.2:c.331C>T | NP_006340.1:p.Arg111Trp | |
| XM_011515739.1:c.376C>T | XP_011514041.1:p.Arg126Trp | |
| XM_011515739.2:c.376C>T | XP_011514041.1:p.Arg126Trp | |
| NM_006349.3:c.331C>T MANE Select | NP_006340.1:p.Arg111Trp |