Canonical Allele Identifier:
CA14774661
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57047844 (NFE)
Genomes Max Group AF
0.57047844 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40632414A>G , CM000682.2:g.40632414A>G | GRCh38 |
| NC_000020.10:g.39261054A>G , CM000682.1:g.39261054A>G | GRCh37 |
| NC_000020.9:g.38694468A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754596.1:n.243+3174T>C | ||
| XR_001754597.1:n.180+11497T>C |