Canonical Allele Identifier:
CA220896090
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95167153 (NFE)
Genomes Max Group AF
0.95167153 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.38263951T>C , CM000673.2:g.38263951T>C | GRCh38 |
| NC_000011.9:g.38285501T>C , CM000673.1:g.38285501T>C | GRCh37 |
| NC_000011.8:g.38242077T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931202.1:n.303+61224A>G |