Canonical Allele Identifier:
CA13461841
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85791249 (EAS)
Genomes Max Group AF
0.85791249 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61064810T>C , CM000673.2:g.61064810T>C | GRCh38 |
| NC_000011.9:g.60832282T>C , CM000673.1:g.60832282T>C | GRCh37 |
| NC_000011.8:g.60588858T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_950154.1:n.145+27487A>G | ||
| XR_950154.2:n.208+27487A>G |