Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124870035C>T , CM000673.2:g.124870035C>T | GRCh38 |
| NC_000011.9:g.124739931C>T , CM000673.1:g.124739931C>T | GRCh37 |
| NC_000011.8:g.124245141C>T | NCBI36 |
| NG_016214.1:g.9627C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.733C>T MANE Select | ENSP00000380903.1:p.Arg245Trp | |
| ENST00000397801.5:c.733C>T | ENSP00000380903.1:p.Arg245Trp | |
| ENST00000538940.5:c.667C>T | ENSP00000441797.1:p.Arg223Trp | |
| NM_022370.3:c.733C>T | NP_071765.2:p.Arg245Trp | |
| XM_011542953.1:c.1705C>T | XP_011541255.1:p.Arg569Trp | |
| XM_017018122.1:c.667C>T | XP_016873611.1:p.Arg223Trp | |
| NM_022370.4:c.733C>T MANE Select | NP_071765.2:p.Arg245Trp |