Canonical Allele Identifier:
CA12300390
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15365817 (MID)
Genomes Max Group AF
0.10590473 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87942862T>C , CM000668.2:g.87942862T>C | GRCh38 |
| NC_000006.11:g.88652580T>C , CM000668.1:g.88652580T>C | GRCh37 |
| NC_000006.10:g.88709299T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001744246.1:n.1581T>C |