Canonical Allele Identifier:
CA15524531
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80230209 (EAS)
Genomes Max Group AF
0.80230209 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.31115733T>C , CM000669.2:g.31115733T>C | GRCh38 |
| NC_000007.13:g.31155347T>C , CM000669.1:g.31155347T>C | GRCh37 |
| NC_000007.12:g.31121872T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002956556.1:n.8284A>G |