Linked Data
dbSNP Id:
rs375003314
ExAC:
1:161559614 G / T
gnomAD v2:
1-161559614-G-T
gnomAD v3:
1-161589824-G-T
gnomAD v4:
1-161589824-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589824G>T , CM000663.2:g.161589824G>T | GRCh38 |
| NC_000001.10:g.161559614G>T , CM000663.1:g.161559614G>T | GRCh37 |
| NC_000001.9:g.159826238G>T | NCBI36 |
| NG_011982.1:g.13486G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40793C>A | ENSP00000514363.1:n.41-40793C>A | |
| ENST00000699403.1:c.61+40544C>A | ENSP00000514364.1:n.61+40544C>A | |
| ENST00000465075.6:n.483+5G>T | ||
| ENST00000466542.6:c.391+5G>T | ENSP00000426627.1:n.391+5G>T | |
| ENST00000473530.6:n.572+5G>T | ||
| ENST00000473712.6:n.413+5G>T | ||
| ENST00000482226.2:n.370+5G>T | ||
| ENST00000496692.6:n.492G>T | ||
| ENST00000543859.5:c.388+5G>T | ENSP00000444663.2:n.388+5G>T | |
| ENST00000611236.1:c.388+5G>T | ENSP00000480953.1:n.388+5G>T | |
| NR_047648.1:n.490+5G>T |