Canonical Allele Identifier:
CA181551795
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25000785 (AFR)
Genomes Max Group AF
0.25000785 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.88572819G>A , CM000670.2:g.88572819G>A | GRCh38 |
| NC_000008.10:g.89585048G>A , CM000670.1:g.89585048G>A | GRCh37 |
| NC_000008.9:g.89654164G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928383.1:n.330-6707C>T | ||
| XR_001745651.2:n.1082-6707C>T | ||
| XR_001745653.2:n.416+30009G>A | ||
| XR_928383.3:n.1082-6707C>T |