Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112482480C>T , CM000664.2:g.112482480C>T | GRCh38 |
| NC_000002.11:g.113240057C>T , CM000664.1:g.113240057C>T | GRCh37 |
| NC_000002.10:g.112956528C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153712.5:c.136C>T MANE Select | NP_714923.1:p.Arg46Trp |
| ENST00000233336.7:c.136C>T MANE Select | ENSP00000233336.5:p.Arg46Trp |
| NM_001371712.1:c.136C>T | NP_001358641.1:p.Arg46Trp |
| NM_153712.4:c.136C>T | NP_714923.1:p.Arg46Trp |
| ENST00000233336.6:c.136C>T | ENSP00000233336.5:p.Arg46Trp |
| ENST00000485537.1:n.282C>T | |
| XM_005263599.2:c.136C>T | XP_005263656.1:p.Arg46Trp |
| XM_005263599.3:c.136C>T | XP_005263656.1:p.Arg46Trp |
| XM_011510665.1:c.136C>T | XP_011508967.1:p.Arg46Trp |
| XM_011510665.2:c.136C>T | XP_011508967.1:p.Arg46Trp |