Canonical Allele Identifier:
CA2221132761
Gene:
Linked Data
dbSNP Id:
rs1961465849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.49108540C>G , CM000678.2:g.49108540C>G | GRCh38 |
| NC_000016.9:g.49142451C>G , CM000678.1:g.49142451C>G | GRCh37 |
| NC_000016.8:g.47699952C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933517.1:n.810+1404G>C | ||
| XR_001752138.2:n.591+5436G>C | ||
| XR_933517.2:n.810+1404G>C |