Canonical Allele Identifier:
CA1941455921
Gene:
Linked Data
dbSNP Id:
rs2097478715
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122458285G>C , CM000672.2:g.122458285G>C | GRCh38 |
| NC_000010.10:g.124217801G>C , CM000672.1:g.124217801G>C | GRCh37 |
| NC_000010.9:g.124207791G>C | NCBI36 |
| NG_011554.1:g.1761G>C | |
| NG_011725.1:g.8623G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946382.1:n.1827+210C>G | ||
| XR_946383.1:n.1827+210C>G | ||
| XR_946384.1:n.1576+210C>G | ||
| XR_946385.1:n.1827+210C>G | ||
| XR_946382.2:n.1855+210C>G | ||
| XR_946383.2:n.1855+210C>G | ||
| XR_946384.2:n.1580+210C>G | ||
| XR_946385.2:n.1855+210C>G |