Canonical Allele Identifier:
CA15967378
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40585696 (NFE)
Genomes Max Group AF
0.40585696 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40633339G>A , CM000682.2:g.40633339G>A | GRCh38 |
| NC_000020.10:g.39261979G>A , CM000682.1:g.39261979G>A | GRCh37 |
| NC_000020.9:g.38695393G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754596.1:n.243+2249C>T | ||
| XR_001754597.1:n.180+10572C>T |