Canonical Allele Identifier:
CA15379876
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40739218 (EAS)
Genomes Max Group AF
0.40739218 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159337470T>C , CM000667.2:g.159337470T>C | GRCh38 |
| NC_000005.9:g.158764478T>C , CM000667.1:g.158764478T>C | GRCh37 |
| NC_000005.8:g.158697056T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_037889.1:n.745+4467T>C |