HGVS | Genome Assembly |
---|---|
NC_000001.11:g.20618474A>G , CM000663.2:g.20618474A>G | GRCh38 |
NC_000001.10:g.20944967A>G , CM000663.1:g.20944967A>G | GRCh37 |
NC_000001.9:g.20817554A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375071.4:c.347A>G MANE Select | ENSP00000364212.3:p.Tyr116Cys | |
ENST00000375071.3:c.347A>G | ENSP00000364212.3:p.Tyr116Cys | |
ENST00000461985.1:n.333A>G | ||
NM_001785.2:c.347A>G | NP_001776.1:p.Tyr116Cys | |
NM_001785.3:c.347A>G MANE Select | NP_001776.1:p.Tyr116Cys |