Canonical Allele Identifier:
CA11208909
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56842252 (EAS)
Genomes Max Group AF
0.56842252 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219999933A>C , CM000664.2:g.219999933A>C | GRCh38 |
| NC_000002.11:g.220864654A>C , CM000664.1:g.220864654A>C | GRCh37 |
| NC_000002.10:g.220572898A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923928.1:n.125-13837A>C | ||
| XR_923930.1:n.125-13837A>C | ||
| XR_001739888.1:n.326-13837A>C | ||
| XR_923928.2:n.125-13837A>C | ||
| XR_923930.2:n.125-13837A>C |