Canonical Allele Identifier:
CA13553877
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73277682 (EAS)
Genomes Max Group AF
0.73277682 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35063045T>C , CM000673.2:g.35063045T>C | GRCh38 |
| NC_000011.9:g.35084592T>C , CM000673.1:g.35084592T>C | GRCh37 |
| NC_000011.8:g.35041168T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931192.1:n.768+2075A>G | ||
| XR_001748179.1:n.934+2075A>G | ||
| XR_001748180.1:n.937+2075A>G | ||
| XR_001748181.1:n.2525A>G | ||
| XR_001748182.1:n.235+2075A>G | ||
| XR_001748183.2:n.1876A>G | ||
| XR_931192.2:n.937+2075A>G |