Canonical Allele Identifier:
CA39690117
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16522101 (AFR)
Genomes Max Group AF
0.16522101 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.232308709C>T , CM000663.2:g.232308709C>T | GRCh38 |
| NC_000001.10:g.232444455C>T , CM000663.1:g.232444455C>T | GRCh37 |
| NC_000001.9:g.230511078C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001738524.1:n.711+4013G>A |