Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178602C>T , CM000673.2:g.89178602C>T | GRCh38 |
| NC_000011.9:g.88911770C>T , CM000673.1:g.88911770C>T | GRCh37 |
| NC_000011.8:g.88551418C>T | NCBI36 |
| NG_008748.1:g.5731C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.649C>T MANE Select | NP_000363.1:p.Arg217Trp |
| ENST00000263321.6:c.649C>T MANE Select | ENSP00000263321.4:p.Arg217Trp |
| NM_000372.4:c.649C>T | NP_000363.1:p.Arg217Trp |
| ENST00000263321.5:c.649C>T | ENSP00000263321.4:p.Arg217Trp |
| ENST00000526139.1:n.710C>T | |
| XM_011542970.1:c.649C>T | XP_011541272.1:p.Arg217Trp |
| XM_011542970.2:c.649C>T | XP_011541272.1:p.Arg217Trp |
| XR_001748321.1:n.2718-65069G>A | |
| XR_001748322.1:n.2733-65069G>A |