gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21594137 (AFR)
Genomes Max Group AF
0.21594137 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233777511C>T , CM000664.2:g.233777511C>T | GRCh38 |
| NC_000002.11:g.234686157C>T , CM000664.1:g.234686157C>T | GRCh37 |
| NC_000002.10:g.234350896C>T | NCBI36 |
| NG_051337.1:g.6850C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428446.5:c.-13+1754C>T | ENSP00000404614.1:n.-13+1754C>T | |
| ENST00000430892.5:c.-15+1754C>T | ENSP00000392128.1:n.-15+1754C>T | |
| ENST00000454283.1:c.-84+1754C>T | ENSP00000409355.1:n.-84+1754C>T | |
| ENST00000610772.4:c.-15+1754C>T | ENSP00000477597.1:n.-15+1754C>T | |
| NM_001287395.1:c.-15+1754C>T | NP_001274324.1:n.-15+1754C>T | |
| XM_011511080.1:c.-15+1754C>T | XP_011509382.1:n.-15+1754C>T | |
| XM_024452842.1:c.-15+1754C>T | XP_024308610.1:n.-15+1754C>T | |
| NM_001367507.1:c.-15+1754C>T | NP_001354436.1:n.-15+1754C>T |