Canonical Allele Identifier:
CA15647892
Gene:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40783252 (NFE)
Genomes Max Group AF
0.40783252 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.9011169C>T , CM000672.2:g.9011169C>T | GRCh38 |
| NC_000010.10:g.9053132C>T , CM000672.1:g.9053132C>T | GRCh37 |
| NC_000010.9:g.9093138C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930641.1:n.32+54194G>A |