HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589599G= , CM000663.2:g.161589599G= | GRCh38 |
NC_000001.10:g.161559389G= , CM000663.1:g.161559389G= | GRCh37 |
NC_000001.9:g.159826013G= | NCBI36 |
NG_011982.1:g.13261G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40568C= | ENSP00000514363.1:n.41-40568C= | |
ENST00000699403.1:c.61+40769C= | ENSP00000514364.1:n.61+40769C= | |
ENST00000465075.6:n.263G= | ||
ENST00000466542.6:c.171G= | ENSP00000426627.1:p.Ter57= | |
ENST00000473530.6:n.352G= | ||
ENST00000473712.6:n.193G= | ||
ENST00000482226.2:n.150G= | ||
ENST00000496692.6:n.267G= | ||
ENST00000502411.5:n.468G= | ||
ENST00000543859.5:c.169-1G= | ENSP00000444663.2:n.169-1G= | |
ENST00000611236.1:c.169-1G= | ENSP00000480953.1:n.169-1G= | |
NR_047648.1:n.270G= |