HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589785C>T , CM000663.2:g.161589785C>T | GRCh38 |
NC_000001.10:g.161559575C>T , CM000663.1:g.161559575C>T | GRCh37 |
NC_000001.9:g.159826199C>T | NCBI36 |
NG_011982.1:g.13447C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40754G>A | ENSP00000514363.1:n.41-40754G>A | |
ENST00000699403.1:c.61+40583G>A | ENSP00000514364.1:n.61+40583G>A | |
ENST00000465075.6:n.449C>T | ||
ENST00000466542.6:c.357C>T | ENSP00000426627.1:p.Ser119= | |
ENST00000473530.6:n.538C>T | ||
ENST00000473712.6:n.379C>T | ||
ENST00000482226.2:n.336C>T | ||
ENST00000496692.6:n.453C>T | ||
ENST00000543859.5:c.354C>T | ENSP00000444663.2:p.Ser118= | |
ENST00000611236.1:c.354C>T | ENSP00000480953.1:p.Ser118= | |
NR_047648.1:n.456C>T |