Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589762A= , CM000663.2:g.161589762A= | GRCh38 |
| NC_000001.10:g.161559552A= , CM000663.1:g.161559552A= | GRCh37 |
| NC_000001.9:g.159826176A= | NCBI36 |
| NG_011982.1:g.13424A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40731T= | ENSP00000514363.1:n.41-40731T= | |
| ENST00000699403.1:c.61+40606T= | ENSP00000514364.1:n.61+40606T= | |
| ENST00000465075.6:n.426A= | ||
| ENST00000466542.6:c.334A= | ENSP00000426627.1:p.Thr112= | |
| ENST00000473530.6:n.515A= | ||
| ENST00000473712.6:n.356A= | ||
| ENST00000482226.2:n.313A= | ||
| ENST00000496692.6:n.430A= | ||
| ENST00000543859.5:c.331A= | ENSP00000444663.2:p.Thr111= | |
| ENST00000611236.1:c.331A= | ENSP00000480953.1:p.Thr111= | |
| NR_047648.1:n.433A= |