HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589797T>G , CM000663.2:g.161589797T>G | GRCh38 |
NC_000001.10:g.161559587T>G , CM000663.1:g.161559587T>G | GRCh37 |
NC_000001.9:g.159826211T>G | NCBI36 |
NG_011982.1:g.13459T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40766A>C | ENSP00000514363.1:n.41-40766A>C | |
ENST00000699403.1:c.61+40571A>C | ENSP00000514364.1:n.61+40571A>C | |
ENST00000465075.6:n.461T>G | ||
ENST00000466542.6:c.369T>G | ENSP00000426627.1:p.Pro123= | |
ENST00000473530.6:n.550T>G | ||
ENST00000473712.6:n.391T>G | ||
ENST00000482226.2:n.348T>G | ||
ENST00000496692.6:n.465T>G | ||
ENST00000543859.5:c.366T>G | ENSP00000444663.2:p.Pro122= | |
ENST00000611236.1:c.366T>G | ENSP00000480953.1:p.Pro122= | |
NR_047648.1:n.468T>G |