Canonical Allele Identifier:
CA14520001
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33838597 (AFR)
Genomes Max Group AF
0.33838597 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60172536C>A , CM000680.2:g.60172536C>A | GRCh38 |
| NC_000018.9:g.57839769C>A , CM000680.1:g.57839769C>A | GRCh37 |
| NC_000018.8:g.55990749C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935550.1:n.28+600G>T | ||
| XR_935551.1:n.28+600G>T |