Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564713G>A , CM000684.2:g.36564713G>A | GRCh38 |
| NC_000022.10:g.36960760G>A , CM000684.1:g.36960760G>A | GRCh37 |
| NC_000022.9:g.35290706G>A | NCBI36 |
| NG_031861.1:g.142931C>T | |
| NG_031861.2:g.143146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.610C>T MANE Select | ENSP00000300105.6:p.Arg204Trp | |
| ENST00000300105.6:c.610C>T | ENSP00000300105.6:p.Arg204Trp | |
| NM_006078.3:c.610C>T | NP_006069.1:p.Arg204Trp | |
| NM_006078.4:c.610C>T | NP_006069.1:p.Arg204Trp | |
| XM_017028531.2:c.352C>T | XP_016884020.1:p.Arg118Trp | |
| NM_001379051.1:c.541C>T | NP_001365980.1:p.Arg181Trp | |
| NM_006078.5:c.610C>T MANE Select | NP_006069.1:p.Arg204Trp | |
| NR_166440.1:n.1976C>T |