Canonical Allele Identifier:
CA173999200
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31521192 (SAS)
Genomes Max Group AF
0.31521192 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23676505G>T , CM000670.2:g.23676505G>T | GRCh38 |
| NC_000008.10:g.23534018G>T , CM000670.1:g.23534018G>T | GRCh37 |
| NC_000008.9:g.23589963G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745842.1:n.1312+7755G>T |