gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08322807 (AFR)
Genomes Max Group AF
0.08322807 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.17820455G>T , CM000683.2:g.17820455G>T | GRCh38 |
| NC_000021.8:g.19192772G>T , CM000683.1:g.19192772G>T | GRCh37 |
| NC_000021.7:g.18114643G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529455.1:c.-226+841G>T | XP_011527757.1:n.-226+841G>T | |
| XM_011529456.1:c.-329+841G>T | XP_011527758.1:n.-329+841G>T | |
| XM_011529457.1:c.-226+841G>T | XP_011527759.1:n.-226+841G>T | |
| XM_011529457.2:c.-226+841G>T | XP_011527759.1:n.-226+841G>T |