Canonical Allele Identifier:
CA331697464
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58637513 (NFE)
Genomes Max Group AF
0.58637513 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.79241621A>C , CM000685.2:g.79241621A>C | GRCh38 |
| NC_000023.10:g.78497118A>C , CM000685.1:g.78497118A>C | GRCh37 |
| NC_000023.9:g.78383774A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001755902.2:n.1112+4288A>C |