Linked Data
dbSNP Id:
rs1417066
gnomAD v2:
1-219673828-G-A
gnomAD v3:
1-219500486-G-A
gnomAD v4:
1-219500486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219500486G>A , CM000663.2:g.219500486G>A | GRCh38 |
| NC_000001.10:g.219673828G>A , CM000663.1:g.219673828G>A | GRCh37 |
| NC_000001.9:g.217740451G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_922607.1:n.149-30643C>T | ||
| NR_135822.1:n.135-30643C>T | ||
| XR_001738471.1:n.244-1174G>A |