Canonical Allele Identifier:
CA15993208
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42767209 (NFE)
Genomes Max Group AF
0.42767209 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.15432901T>C , CM000683.2:g.15432901T>C | GRCh38 |
| NC_000021.8:g.16805220T>C , CM000683.1:g.16805220T>C | GRCh37 |
| NC_000021.7:g.15727091T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937593.1:n.552+8325A>G | ||
| XR_001754965.2:n.468+11123A>G | ||
| XR_001754970.2:n.468+11123A>G | ||
| XR_001754971.2:n.468+11123A>G |