Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589932T>C , CM000663.2:g.161589932T>C | GRCh38 |
| NC_000001.10:g.161559722T>C , CM000663.1:g.161559722T>C | GRCh37 |
| NC_000001.9:g.159826346T>C | NCBI36 |
| NG_011982.1:g.13594T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40901A>G | ENSP00000514363.1:n.41-40901A>G | |
| ENST00000699403.1:c.61+40436A>G | ENSP00000514364.1:n.61+40436A>G | |
| ENST00000465075.6:n.483+113T>C | ||
| ENST00000466542.6:c.391+113T>C | ENSP00000426627.1:n.391+113T>C | |
| ENST00000473530.6:n.572+113T>C | ||
| ENST00000473712.6:n.413+113T>C | ||
| ENST00000482226.2:n.370+113T>C | ||
| ENST00000543859.5:c.388+113T>C | ENSP00000444663.2:n.388+113T>C | |
| ENST00000611236.1:c.388+113T>C | ENSP00000480953.1:n.388+113T>C | |
| NR_047648.1:n.490+113T>C |