Canonical Allele Identifier:
CA143380816
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12078401 (AMR)
Genomes Max Group AF
0.12078401 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.90305320C>T , CM000668.2:g.90305320C>T | GRCh38 |
| NC_000006.11:g.91015039C>T , CM000668.1:g.91015039C>T | GRCh37 |
| NC_000006.10:g.91071760C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942778.3:n.570+7584C>T |