gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63690242 (AMR)
Genomes Max Group AF
0.63690242 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32652845A>T , CM000668.2:g.32652845A>T | GRCh38 |
| NC_000006.11:g.32620622A>T , CM000668.1:g.32620622A>T | GRCh37 |
| NC_000006.10:g.32728600A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006715079.2:c.614-1822A>T | XP_006715142.1:n.614-1822A>T | |
| XM_006715079.4:c.614-1822A>T | XP_006715142.1:n.614-1822A>T |