Linked Data
dbSNP Id:
rs1435286345
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589874T>G , CM000663.2:g.161589874T>G | GRCh38 |
| NC_000001.10:g.161559664T>G , CM000663.1:g.161559664T>G | GRCh37 |
| NC_000001.9:g.159826288T>G | NCBI36 |
| NG_011982.1:g.13536T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40843A>C | ENSP00000514363.1:n.41-40843A>C | |
| ENST00000699403.1:c.61+40494A>C | ENSP00000514364.1:n.61+40494A>C | |
| ENST00000465075.6:n.483+55T>G | ||
| ENST00000466542.6:c.391+55T>G | ENSP00000426627.1:n.391+55T>G | |
| ENST00000473530.6:n.572+55T>G | ||
| ENST00000473712.6:n.413+55T>G | ||
| ENST00000482226.2:n.370+55T>G | ||
| ENST00000496692.6:n.542T>G | ||
| ENST00000543859.5:c.388+55T>G | ENSP00000444663.2:n.388+55T>G | |
| ENST00000611236.1:c.388+55T>G | ENSP00000480953.1:n.388+55T>G | |
| NR_047648.1:n.490+55T>G |