Canonical Allele Identifier:
CA14232783
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22163971 (NFE)
Genomes Max Group AF
0.22163971 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.85939422T>C , CM000678.2:g.85939422T>C | GRCh38 |
| NC_000016.9:g.85973028T>C , CM000678.1:g.85973028T>C | GRCh37 |
| NC_000016.8:g.84530529T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933852.1:n.466-5994T>C | ||
| XR_933853.1:n.466-5994T>C |