Linked Data
dbSNP Id:
rs1551398
gnomAD v2:
8-126540051-G-A
gnomAD v3:
8-125527809-G-A
gnomAD v4:
8-125527809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125527809G>A , CM000670.2:g.125527809G>A | GRCh38 |
| NC_000008.10:g.126540051G>A , CM000670.1:g.126540051G>A | GRCh37 |
| NC_000008.9:g.126609233G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_928628.1:n.256+54495G>A | ||
| XR_001746072.1:n.583+4796G>A | ||
| XR_001746073.1:n.583+4796G>A |