Canonical Allele Identifier:
CA71005771
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.18725912C>A , CM000665.2:g.18725912C>A | GRCh38 |
| NC_000003.11:g.18767404C>A , CM000665.1:g.18767404C>A | GRCh37 |
| NC_000003.10:g.18742408C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001740423.1:n.60-20042C>A |