Canonical Allele Identifier:
CA12465548
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89167821 (EAS)
Genomes Max Group AF
0.89167821 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45986582A>G , CM000669.2:g.45986582A>G | GRCh38 |
| NC_000007.13:g.46026181A>G , CM000669.1:g.46026181A>G | GRCh37 |
| NC_000007.12:g.45992706A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_927237.1:n.720-3951A>G | ||
| XR_927238.1:n.720-3951A>G | ||
| XR_927239.1:n.720-3951A>G | ||
| XR_927240.1:n.719+6555A>G | ||
| XR_001745202.1:n.725-3951A>G | ||
| XR_001745203.1:n.725-3951A>G |