HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589689T>C , CM000663.2:g.161589689T>C | GRCh38 |
NC_000001.10:g.161559479T>C , CM000663.1:g.161559479T>C | GRCh37 |
NC_000001.9:g.159826103T>C | NCBI36 |
NG_011982.1:g.13351T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40658A>G | ENSP00000514363.1:n.41-40658A>G | |
ENST00000699403.1:c.61+40679A>G | ENSP00000514364.1:n.61+40679A>G | |
ENST00000465075.6:n.353T>C | ||
ENST00000466542.6:c.261T>C | ENSP00000426627.1:p.Asn87= | |
ENST00000473530.6:n.442T>C | ||
ENST00000473712.6:n.283T>C | ||
ENST00000482226.2:n.240T>C | ||
ENST00000496692.6:n.357T>C | ||
ENST00000502411.5:n.558T>C | ||
ENST00000543859.5:c.258T>C | ENSP00000444663.2:p.Asn86= | |
ENST00000611236.1:c.258T>C | ENSP00000480953.1:p.Asn86= | |
NR_047648.1:n.360T>C |