gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2954272 (SAS)
Genomes Max Group AF
0.2954272 (SAS)
Exomes Max Group AF
0.15957002 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33620370C>T , CM000668.2:g.33620370C>T | GRCh38 |
| NC_000006.11:g.33588147C>T , CM000668.1:g.33588147C>T | GRCh37 |
| NC_000006.10:g.33696125C>T | NCBI36 |
| NG_027729.1:g.3992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374316.9:c.-1055C>T | ENSP00000363435.4:n.-1055C>T |