Canonical Allele Identifier:
CA16456560
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45220179 (EAS)
Genomes Max Group AF
0.45220179 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115439972T>C , CM000674.2:g.115439972T>C | GRCh38 |
| NC_000012.11:g.115877777T>C , CM000674.1:g.115877777T>C | GRCh37 |
| NC_000012.10:g.114362160T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945388.1:n.461-32641A>G | ||
| XR_945389.1:n.461-32641A>G | ||
| XR_945388.2:n.465-32641A>G | ||
| XR_945389.2:n.465-32641A>G |