Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286031C>T , CM000683.2:g.44286031C>T | GRCh38 |
| NC_000021.8:g.45705914C>T , CM000683.1:g.45705914C>T | GRCh37 |
| NC_000021.7:g.44530342C>T | NCBI36 |
| NG_009556.1:g.5152C>T , LRG_18:g.5152C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.25C>T MANE Select | NP_000374.1:p.Arg9Trp |
| ENST00000291582.6:c.25C>T MANE Select | ENSP00000291582.5:p.Arg9Trp |
| NM_000383.3:c.25C>T | NP_000374.1:p.Arg9Trp |
| ENST00000291582.5:c.25C>T | ENSP00000291582.5:p.Arg9Trp |
| ENST00000527919.5:n.186C>T | |
| ENST00000530812.5:n.194C>T | |
| XM_011529551.1:c.25C>T | XP_011527853.1:p.Arg9Trp |