Linked Data
dbSNP Id:
rs1781753199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17285506A>C , CM000669.2:g.17285506A>C | GRCh38 |
| NC_000007.13:g.17325130A>C , CM000669.1:g.17325130A>C | GRCh37 |
| NC_000007.12:g.17291655A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642825.1:c.-202-10791A>C | ENSP00000495987.1:n.-202-10791A>C | |
| XR_927069.1:n.567+737T>G | ||
| XR_927070.1:n.567+737T>G | ||
| XR_927071.1:n.567+737T>G | ||
| XR_927072.1:n.568+737T>G | ||
| XR_927073.2:n.711+737T>G |