Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.21705827C>T , CM000682.2:g.21705827C>T | GRCh38 |
| NC_000020.10:g.21686465C>T , CM000682.1:g.21686465C>T | GRCh37 |
| NC_000020.9:g.21634465C>T | NCBI36 |
| NG_047065.1:g.5169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613128.5:c.115C>T MANE Select | ENSP00000481334.1:p.Arg39Cys | |
| ENST00000398485.6:c.115C>T | ENSP00000381499.2:p.Arg39Cys | |
| ENST00000460221.1:n.56+85C>T | ||
| ENST00000613128.4:c.115C>T | ENSP00000481334.1:p.Arg39Cys | |
| NM_001257096.1:c.115C>T | NP_001244025.1:p.Arg39Cys | |
| NM_006192.4:c.115C>T | NP_006183.2:p.Arg39Cys | |
| NM_006192.5:c.115C>T | NP_006183.2:p.Arg39Cys | |
| NM_001257096.2:c.115C>T MANE Select | NP_001244025.1:p.Arg39Cys |