Canonical Allele Identifier:
CA14265296
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81186547 (SAS)
Genomes Max Group AF
0.81186547 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50109033A>G , CM000678.2:g.50109033A>G | GRCh38 |
| NC_000016.9:g.50142944A>G , CM000678.1:g.50142944A>G | GRCh37 |
| NC_000016.8:g.48700445A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011523490.1:c.115-2381T>C | XP_011521792.1:n.115-2381T>C |