Canonical Allele Identifier:
CA121183073
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43583154 (EAS)
Genomes Max Group AF
0.43583154 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79803175C>T , CM000667.2:g.79803175C>T | GRCh38 |
| NC_000005.9:g.79098998C>T , CM000667.1:g.79098998C>T | GRCh37 |
| NC_000005.8:g.79134754C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_427736.2:n.371+1421C>T |