Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589758G= , CM000663.2:g.161589758G= | GRCh38 |
| NC_000001.10:g.161559548G= , CM000663.1:g.161559548G= | GRCh37 |
| NC_000001.9:g.159826172G= | NCBI36 |
| NG_011982.1:g.13420G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40727C= | ENSP00000514363.1:n.41-40727C= | |
| ENST00000699403.1:c.61+40610C= | ENSP00000514364.1:n.61+40610C= | |
| ENST00000465075.6:n.422G= | ||
| ENST00000466542.6:c.330G= | ENSP00000426627.1:p.Glu110= | |
| ENST00000473530.6:n.511G= | ||
| ENST00000473712.6:n.352G= | ||
| ENST00000482226.2:n.309G= | ||
| ENST00000496692.6:n.426G= | ||
| ENST00000543859.5:c.327G= | ENSP00000444663.2:p.Glu109= | |
| ENST00000611236.1:c.327G= | ENSP00000480953.1:p.Glu109= | |
| NR_047648.1:n.429G= |