Canonical Allele Identifier:
CA242684020
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09705318 (EAS)
Genomes Max Group AF
0.09705318 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102591927G>T , CM000674.2:g.102591927G>T | GRCh38 |
| NC_000012.11:g.102985705G>T , CM000674.1:g.102985705G>T | GRCh37 |
| NC_000012.10:g.101509835G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749289.1:n.1953-98179G>T |