Canonical Allele Identifier:
CA14261228
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40592825 (EAS)
Genomes Max Group AF
0.40592825 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9249490G>A , CM000678.2:g.9249490G>A | GRCh38 |
| NC_000016.9:g.9343347G>A , CM000678.1:g.9343347G>A | GRCh37 |
| NC_000016.8:g.9250848G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933054.1:n.70+64757G>A |