HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589647G>T , CM000663.2:g.161589647G>T | GRCh38 |
NC_000001.10:g.161559437G>T , CM000663.1:g.161559437G>T | GRCh37 |
NC_000001.9:g.159826061G>T | NCBI36 |
NG_011982.1:g.13309G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40616C>A | ENSP00000514363.1:n.41-40616C>A | |
ENST00000699403.1:c.61+40721C>A | ENSP00000514364.1:n.61+40721C>A | |
ENST00000465075.6:n.311G>T | ||
ENST00000466542.6:c.219G>T | ENSP00000426627.1:p.Gly73= | |
ENST00000473530.6:n.400G>T | ||
ENST00000473712.6:n.241G>T | ||
ENST00000482226.2:n.198G>T | ||
ENST00000496692.6:n.315G>T | ||
ENST00000502411.5:n.516G>T | ||
ENST00000543859.5:c.216G>T | ENSP00000444663.2:p.Gly72= | |
ENST00000611236.1:c.216G>T | ENSP00000480953.1:p.Gly72= | |
NR_047648.1:n.318G>T |