HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589605C>A , CM000663.2:g.161589605C>A | GRCh38 |
NC_000001.10:g.161559395C>A , CM000663.1:g.161559395C>A | GRCh37 |
NC_000001.9:g.159826019C>A | NCBI36 |
NG_011982.1:g.13267C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40574G>T | ENSP00000514363.1:n.41-40574G>T | |
ENST00000699403.1:c.61+40763G>T | ENSP00000514364.1:n.61+40763G>T | |
ENST00000465075.6:n.269C>A | ||
ENST00000466542.6:c.177C>A | ENSP00000426627.1:p.Ile59= | |
ENST00000473530.6:n.358C>A | ||
ENST00000473712.6:n.199C>A | ||
ENST00000482226.2:n.156C>A | ||
ENST00000496692.6:n.273C>A | ||
ENST00000502411.5:n.474C>A | ||
ENST00000543859.5:c.174C>A | ENSP00000444663.2:p.Ile58= | |
ENST00000611236.1:c.174C>A | ENSP00000480953.1:p.Ile58= | |
NR_047648.1:n.276C>A |