Linked Data
dbSNP Id:
rs2040603130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13316287T>A , CM000682.2:g.13316287T>A | GRCh38 |
| NC_000020.10:g.13296934T>A , CM000682.1:g.13296934T>A | GRCh37 |
| NC_000020.9:g.13244934T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_937280.1:n.601-232A>T | ||
| XM_017027680.1:c.878-8779T>A (ISM1) | XP_016883169.1:n.878-8779T>A | |
| XR_001754319.2:n.1282-232A>T (TASP1) |