gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3657466 (SAS)
Genomes Max Group AF
0.3657466 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.133686160C>T , CM000667.2:g.133686160C>T | GRCh38 |
| NC_000005.9:g.133021851C>T , CM000667.1:g.133021851C>T | GRCh37 |
| NC_000005.8:g.133049750C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011543283.1:c.-10-82167G>A | XP_011541585.1:n.-10-82167G>A |