Canonical Allele Identifier:
CA318813265
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49791385 (MID)
Genomes Max Group AF
0.3846712 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.22259356G>T , CM000683.2:g.22259356G>T | GRCh38 |
| NC_000021.8:g.23631676G>T , CM000683.1:g.23631676G>T | GRCh37 |
| NC_000021.7:g.22553547G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754978.1:n.221+46543G>T |