Canonical Allele Identifier:
CA2206404217
Gene:
Linked Data
dbSNP Id:
rs1416434130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9249568C>G , CM000678.2:g.9249568C>G | GRCh38 |
| NC_000016.9:g.9343425C>G , CM000678.1:g.9343425C>G | GRCh37 |
| NC_000016.8:g.9250926C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933054.1:n.70+64835C>G |