gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72470323 (AFR)
Genomes Max Group AF
0.72470323 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3795528C>T , CM000682.2:g.3795528C>T | GRCh38 |
| NC_000020.10:g.3776175C>T , CM000682.1:g.3776175C>T | GRCh37 |
| NC_000020.9:g.3724175C>T | NCBI36 |
| NG_029040.2:g.13757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344256.10:c.9-2094C>T | ENSP00000339125.6:n.9-2094C>T | |
| ENST00000379598.9:c.9-2094C>T | ENSP00000368918.5:n.9-2094C>T | |
| NM_001287516.1:c.9-2094C>T | NP_001274445.1:n.9-2094C>T | |
| NM_001287517.1:c.9-2136C>T | NP_001274446.1:n.9-2136C>T | |
| NM_001287518.1:c.9-2094C>T | NP_001274447.1:n.9-2094C>T | |
| NR_136336.1:n.369-2094C>T | ||
| NM_001287516.2:c.9-2094C>T | NP_001274445.1:n.9-2094C>T | |
| NM_001287517.2:c.9-2136C>T | NP_001274446.1:n.9-2136C>T | |
| NM_001287518.2:c.9-2094C>T | NP_001274447.1:n.9-2094C>T | |
| NR_136336.2:n.190-2094C>T |