Canonical Allele Identifier:
CA11997936
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7252622 (EAS)
Genomes Max Group AF
0.7252622 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.28747216G>C , CM000667.2:g.28747216G>C | GRCh38 |
| NC_000005.9:g.28747323G>C , CM000667.1:g.28747323G>C | GRCh37 |
| NC_000005.8:g.28783080G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925882.1:n.75-37242C>G | ||
| XR_925883.1:n.75-37242C>G | ||
| XR_925884.1:n.75-37242C>G | ||
| XR_001742621.1:n.182+3047G>C |