Canonical Allele Identifier:
CA261488114
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59587866 (NFE)
Genomes Max Group AF
0.59587866 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54093300T>C , CM000676.2:g.54093300T>C | GRCh38 |
| NC_000014.8:g.54560018T>C , CM000676.1:g.54560018T>C | GRCh37 |
| NC_000014.7:g.53629768T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943882.1:n.690-1203A>G | ||
| XR_943883.1:n.690-48169A>G | ||
| XR_943882.2:n.690-1203A>G | ||
| XR_943883.2:n.690-48169A>G |