Linked Data
dbSNP Id:
rs1193528579
gnomAD v2:
20-13296787-G-A
gnomAD v3:
20-13316140-G-A
gnomAD v4:
20-13316140-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13316140G>A , CM000682.2:g.13316140G>A | GRCh38 |
| NC_000020.10:g.13296787G>A , CM000682.1:g.13296787G>A | GRCh37 |
| NC_000020.9:g.13244787G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937280.1:n.601-85C>T | ||
| XM_017027680.1:c.878-8926G>A (ISM1) | XP_016883169.1:n.878-8926G>A | |
| XR_001754319.2:n.1282-85C>T (TASP1) |