Canonical Allele Identifier:
CA15083515
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8879692 (SAS)
Genomes Max Group AF
0.8879692 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192567683C>A , CM000663.2:g.192567683C>A | GRCh38 |
| NC_000001.10:g.192536813C>A , CM000663.1:g.192536813C>A | GRCh37 |
| NC_000001.9:g.190803436C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_922382.1:n.267-467G>T | ||
| XR_002958418.1:n.288-467G>T |