Linked Data
dbSNP Id:
rs2156107
gnomAD v2:
18-70546470-C-T
gnomAD v3:
18-72879235-C-T
gnomAD v4:
18-72879235-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.72879235C>T , CM000680.2:g.72879235C>T | GRCh38 |
| NC_000018.9:g.70546470C>T , CM000680.1:g.70546470C>T | GRCh37 |
| NC_000018.8:g.68697450C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011526284.1:c.280-1955C>T | XP_011524586.1:n.280-1955C>T | |
| XM_011526285.1:c.719-1955C>T | XP_011524587.1:n.719-1955C>T | |
| XR_935618.1:n.735-852C>T | ||
| XR_935619.1:n.134-1955C>T | ||
| XR_935620.1:n.721-1955C>T | ||
| NR_134647.1:n.102-852C>T | ||
| NR_134648.1:n.76-1955C>T |