Canonical Allele Identifier:
CA15498336
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76208252 (EAS)
Genomes Max Group AF
0.76208252 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127524904A>G , CM000669.2:g.127524904A>G | GRCh38 |
| NC_000007.13:g.127164958A>G , CM000669.1:g.127164958A>G | GRCh37 |
| NC_000007.12:g.126952194A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_927939.1:n.387+10245T>C | ||
| XR_001745351.1:n.2291+10245T>C | ||
| XR_001745352.1:n.493+10245T>C |