HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589620G= , CM000663.2:g.161589620G= | GRCh38 |
NC_000001.10:g.161559410G= , CM000663.1:g.161559410G= | GRCh37 |
NC_000001.9:g.159826034G= | NCBI36 |
NG_011982.1:g.13282G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40589C= | ENSP00000514363.1:n.41-40589C= | |
ENST00000699403.1:c.61+40748C= | ENSP00000514364.1:n.61+40748C= | |
ENST00000465075.6:n.284G= | ||
ENST00000466542.6:c.192G= | ENSP00000426627.1:p.Glu64= | |
ENST00000473530.6:n.373G= | ||
ENST00000473712.6:n.214G= | ||
ENST00000482226.2:n.171G= | ||
ENST00000496692.6:n.288G= | ||
ENST00000502411.5:n.489G= | ||
ENST00000543859.5:c.189G= | ENSP00000444663.2:p.Glu63= | |
ENST00000611236.1:c.189G= | ENSP00000480953.1:p.Glu63= | |
NR_047648.1:n.291G= |