Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158255263T>C , CM000663.2:g.158255263T>C | GRCh38 |
| NC_000001.10:g.158225053T>C , CM000663.1:g.158225053T>C | GRCh37 |
| NC_000001.9:g.156491677T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289429.6:c.238T>C MANE Select | ENSP00000289429.5:p.Trp80Arg | |
| ENST00000289429.5:c.238T>C | ENSP00000289429.5:p.Trp80Arg | |
| NM_001763.2:c.238T>C | NP_001754.2:p.Trp80Arg | |
| XM_011510117.1:c.205T>C | XP_011508419.1:p.Trp69Arg | |
| XM_011510118.1:c.238T>C | XP_011508420.1:p.Trp80Arg | |
| NM_001320652.1:c.205T>C | NP_001307581.1:p.Trp69Arg | |
| XM_024450738.1:c.-231T>C | XP_024306506.1:n.-231T>C | |
| NM_001763.3:c.238T>C MANE Select | NP_001754.2:p.Trp80Arg | |
| NM_001320652.2:c.205T>C | NP_001307581.1:p.Trp69Arg |