Canonical Allele Identifier:
CA12726365
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29188296 (EAS)
Genomes Max Group AF
0.29188296 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.57865559T>G , CM000670.2:g.57865559T>G | GRCh38 |
| NC_000008.10:g.58778118T>G , CM000670.1:g.58778118T>G | GRCh37 |
| NC_000008.9:g.58940672T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928921.1:n.346+941T>G | ||
| XR_928921.2:n.348+941T>G |