Canonical Allele Identifier:
CA14627256
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82048787 (EAS)
Genomes Max Group AF
0.82048787 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.43900562C>T , CM000680.2:g.43900562C>T | GRCh38 |
| NC_000018.9:g.41480527C>T , CM000680.1:g.41480527C>T | GRCh37 |
| NC_000018.8:g.39734525C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935415.1:n.241+28511G>A | ||
| XR_935415.2:n.244+28511G>A |