HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589636A= , CM000663.2:g.161589636A= | GRCh38 |
NC_000001.10:g.161559426A= , CM000663.1:g.161559426A= | GRCh37 |
NC_000001.9:g.159826050A= | NCBI36 |
NG_011982.1:g.13298A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40605T= | ENSP00000514363.1:n.41-40605T= | |
ENST00000699403.1:c.61+40732T= | ENSP00000514364.1:n.61+40732T= | |
ENST00000465075.6:n.300A= | ||
ENST00000466542.6:c.208A= | ENSP00000426627.1:p.Thr70= | |
ENST00000473530.6:n.389A= | ||
ENST00000473712.6:n.230A= | ||
ENST00000482226.2:n.187A= | ||
ENST00000496692.6:n.304A= | ||
ENST00000502411.5:n.505A= | ||
ENST00000543859.5:c.205A= | ENSP00000444663.2:p.Thr69= | |
ENST00000611236.1:c.205A= | ENSP00000480953.1:p.Thr69= | |
NR_047648.1:n.307A= |