HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589635G>A , CM000663.2:g.161589635G>A | GRCh38 |
NC_000001.10:g.161559425G>A , CM000663.1:g.161559425G>A | GRCh37 |
NC_000001.9:g.159826049G>A | NCBI36 |
NG_011982.1:g.13297G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40604C>T | ENSP00000514363.1:n.41-40604C>T | |
ENST00000699403.1:c.61+40733C>T | ENSP00000514364.1:n.61+40733C>T | |
ENST00000465075.6:n.299G>A | ||
ENST00000466542.6:c.207G>A | ENSP00000426627.1:p.Leu69= | |
ENST00000473530.6:n.388G>A | ||
ENST00000473712.6:n.229G>A | ||
ENST00000482226.2:n.186G>A | ||
ENST00000496692.6:n.303G>A | ||
ENST00000502411.5:n.504G>A | ||
ENST00000543859.5:c.204G>A | ENSP00000444663.2:p.Leu68= | |
ENST00000611236.1:c.204G>A | ENSP00000480953.1:p.Leu68= | |
NR_047648.1:n.306G>A |