dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2562744 (EAS)
Genomes Max Group AF
0.2562744 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32653058C>T , CM000668.2:g.32653058C>T | GRCh38 |
| NC_000006.11:g.32620835C>T , CM000668.1:g.32620835C>T | GRCh37 |
| NC_000006.10:g.32728813C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006715079.2:c.614-1609C>T | XP_006715142.1:n.614-1609C>T | |
| XM_006715079.4:c.614-1609C>T | XP_006715142.1:n.614-1609C>T |