Canonical Allele Identifier:
CA15799742
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87113578 (EAS)
Genomes Max Group AF
0.87113578 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.80065389T>C , CM000675.2:g.80065389T>C | GRCh38 |
| NC_000013.10:g.80639524T>C , CM000675.1:g.80639524T>C | GRCh37 |
| NC_000013.9:g.79537525T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011535340.1:c.370+4390A>G | XP_011533642.1:n.370+4390A>G |