Linked Data
dbSNP Id:
rs539901
gnomAD v2:
15-58674669-T-G
gnomAD v3:
15-58382470-T-G
gnomAD v4:
15-58382470-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58382470T>G , CM000677.2:g.58382470T>G | GRCh38 |
| NC_000015.9:g.58674669T>G , CM000677.1:g.58674669T>G | GRCh37 |
| NC_000015.8:g.56461961T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558239.5:c.-172+37501A>C | ENSP00000453292.1:n.-172+37501A>C | |
| ENST00000560863.5:n.415+37501A>C | ||
| XR_429537.2:n.164+37501A>C | ||
| XR_001751556.2:n.216+37501A>C | ||
| XR_001751557.2:n.216+37501A>C | ||
| XR_001751558.2:n.216+37501A>C | ||
| XR_001751559.2:n.216+37501A>C | ||
| XR_001751560.2:n.216+37501A>C | ||
| XR_001751563.2:n.216+37501A>C | ||
| XR_429537.4:n.216+37501A>C |