Canonical Allele Identifier:
CA66162350
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24760103 (AFR)
Genomes Max Group AF
0.24760103 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.221034724C>T , CM000664.2:g.221034724C>T | GRCh38 |
| NC_000002.11:g.221899444C>T , CM000664.1:g.221899444C>T | GRCh37 |
| NC_000002.10:g.221607688C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001739897.1:n.187+1546G>A |