Canonical Allele Identifier:
CA560796662
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000685 (EAS)
Genomes Max Group AF
0.0000685 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.92222904G>T , CM000667.2:g.92222904G>T | GRCh38 |
| NC_000005.9:g.91518721G>T , CM000667.1:g.91518721G>T | GRCh37 |
| NC_000005.8:g.91554477G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948565.1:n.394+18220G>T |