Canonical Allele Identifier:
CA12810188
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47488042 (NFE)
Genomes Max Group AF
0.47488042 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.36601936T>C , CM000670.2:g.36601936T>C | GRCh38 |
| NC_000008.10:g.36459454T>C , CM000670.1:g.36459454T>C | GRCh37 |
| NC_000008.9:g.36578612T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_949670.1:n.98-64460A>G |