HGVS | Genome Assembly |
---|---|
NC_000001.11:g.20618471T>A , CM000663.2:g.20618471T>A | GRCh38 |
NC_000001.10:g.20944964T>A , CM000663.1:g.20944964T>A | GRCh37 |
NC_000001.9:g.20817551T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375071.4:c.344T>A MANE Select | ENSP00000364212.3:p.Val115Glu | |
ENST00000375071.3:c.344T>A | ENSP00000364212.3:p.Val115Glu | |
ENST00000461985.1:n.330T>A | ||
NM_001785.2:c.344T>A | NP_001776.1:p.Val115Glu | |
NM_001785.3:c.344T>A MANE Select | NP_001776.1:p.Val115Glu |