HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589639T= , CM000663.2:g.161589639T= | GRCh38 |
NC_000001.10:g.161559429T= , CM000663.1:g.161559429T= | GRCh37 |
NC_000001.9:g.159826053T= | NCBI36 |
NG_011982.1:g.13301T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40608A= | ENSP00000514363.1:n.41-40608A= | |
ENST00000699403.1:c.61+40729A= | ENSP00000514364.1:n.61+40729A= | |
ENST00000465075.6:n.303T= | ||
ENST00000466542.6:c.211T= | ENSP00000426627.1:p.Cys71= | |
ENST00000473530.6:n.392T= | ||
ENST00000473712.6:n.233T= | ||
ENST00000482226.2:n.190T= | ||
ENST00000496692.6:n.307T= | ||
ENST00000502411.5:n.508T= | ||
ENST00000543859.5:c.208T= | ENSP00000444663.2:p.Cys70= | |
ENST00000611236.1:c.208T= | ENSP00000480953.1:p.Cys70= | |
NR_047648.1:n.310T= |