Canonical Allele Identifier:
CA145504644
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78940955 (SAS)
Genomes Max Group AF
0.78940955 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.105740943C>T , CM000668.2:g.105740943C>T | GRCh38 |
| NC_000006.11:g.106188818C>T , CM000668.1:g.106188818C>T | GRCh37 |
| NC_000006.10:g.106295511C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942835.1:n.511-61452G>A |