HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589650T>A , CM000663.2:g.161589650T>A | GRCh38 |
NC_000001.10:g.161559440T>A , CM000663.1:g.161559440T>A | GRCh37 |
NC_000001.9:g.159826064T>A | NCBI36 |
NG_011982.1:g.13312T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40619A>T | ENSP00000514363.1:n.41-40619A>T | |
ENST00000699403.1:c.61+40718A>T | ENSP00000514364.1:n.61+40718A>T | |
ENST00000465075.6:n.314T>A | ||
ENST00000466542.6:c.222T>A | ENSP00000426627.1:p.Thr74= | |
ENST00000473530.6:n.403T>A | ||
ENST00000473712.6:n.244T>A | ||
ENST00000482226.2:n.201T>A | ||
ENST00000496692.6:n.318T>A | ||
ENST00000502411.5:n.519T>A | ||
ENST00000543859.5:c.219T>A | ENSP00000444663.2:p.Thr73= | |
ENST00000611236.1:c.219T>A | ENSP00000480953.1:p.Thr73= | |
NR_047648.1:n.321T>A |