Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589850G>A , CM000663.2:g.161589850G>A | GRCh38 |
| NC_000001.10:g.161559640G>A , CM000663.1:g.161559640G>A | GRCh37 |
| NC_000001.9:g.159826264G>A | NCBI36 |
| NG_011982.1:g.13512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40819C>T | ENSP00000514363.1:n.41-40819C>T | |
| ENST00000699403.1:c.61+40518C>T | ENSP00000514364.1:n.61+40518C>T | |
| ENST00000465075.6:n.483+31G>A | ||
| ENST00000466542.6:c.391+31G>A | ENSP00000426627.1:n.391+31G>A | |
| ENST00000473530.6:n.572+31G>A | ||
| ENST00000473712.6:n.413+31G>A | ||
| ENST00000482226.2:n.370+31G>A | ||
| ENST00000496692.6:n.518G>A | ||
| ENST00000543859.5:c.388+31G>A | ENSP00000444663.2:n.388+31G>A | |
| ENST00000611236.1:c.388+31G>A | ENSP00000480953.1:n.388+31G>A | |
| NR_047648.1:n.490+31G>A |