Canonical Allele Identifier:
CA337760350
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3588941 (EAS)
Genomes Max Group AF
0.44666845 (EAS)
Exomes Max Group AF
0.3344722 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.14941891C>T , CM000686.2:g.14941891C>T | GRCh38 |
| NC_000024.9:g.17053771C>T , CM000686.1:g.17053771C>T | GRCh37 |
| NC_000024.8:g.15563165C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427212.2:n.76+70C>T |