Linked Data
dbSNP Id:
rs2609234
gnomAD v2:
7-34688425-G-A
gnomAD v3:
7-34648813-G-A
gnomAD v4:
7-34648813-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.34648813G>A , CM000669.2:g.34648813G>A | GRCh38 |
| NC_000007.13:g.34688425G>A , CM000669.1:g.34688425G>A | GRCh37 |
| NC_000007.12:g.34654950G>A | NCBI36 |
| NG_021366.1:g.190519C>T | |
| NG_021366.2:g.190519C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_033664.1:n.280-78952C>T | ||
| NR_033665.1:n.279+79924C>T |