Linked Data
dbSNP Id:
rs2040602504
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13316222A>G , CM000682.2:g.13316222A>G | GRCh38 |
| NC_000020.10:g.13296869A>G , CM000682.1:g.13296869A>G | GRCh37 |
| NC_000020.9:g.13244869A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937280.1:n.601-167T>C | ||
| XM_017027680.1:c.878-8844A>G (ISM1) | XP_016883169.1:n.878-8844A>G | |
| XR_001754319.2:n.1282-167T>C (TASP1) |