HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589698C>T , CM000663.2:g.161589698C>T | GRCh38 |
NC_000001.10:g.161559488C>T , CM000663.1:g.161559488C>T | GRCh37 |
NC_000001.9:g.159826112C>T | NCBI36 |
NG_011982.1:g.13360C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40667G>A | ENSP00000514363.1:n.41-40667G>A | |
ENST00000699403.1:c.61+40670G>A | ENSP00000514364.1:n.61+40670G>A | |
ENST00000465075.6:n.362C>T | ||
ENST00000466542.6:c.270C>T | ENSP00000426627.1:p.Leu90= | |
ENST00000473530.6:n.451C>T | ||
ENST00000473712.6:n.292C>T | ||
ENST00000482226.2:n.249C>T | ||
ENST00000496692.6:n.366C>T | ||
ENST00000543859.5:c.267C>T | ENSP00000444663.2:p.Leu89= | |
ENST00000611236.1:c.267C>T | ENSP00000480953.1:p.Leu89= | |
NR_047648.1:n.369C>T |