gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80046969 (EAS)
Genomes Max Group AF
0.80046969 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25070680C>T , CM000665.2:g.25070680C>T | GRCh38 |
| NC_000003.11:g.25112171C>T , CM000665.1:g.25112171C>T | GRCh37 |
| NC_000003.10:g.25087175C>T | NCBI36 |
| NG_029013.3:g.246358C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383772.9:c.-328+10504C>T | ENSP00000373282.5:n.-328+10504C>T | |
| ENST00000455576.2:c.-280+10504C>T | ENSP00000508527.1:n.-280+10504C>T | |
| ENST00000686715.1:c.-400-5483C>T | ENSP00000510539.1:n.-400-5483C>T | |
| ENST00000687353.1:c.-400-5483C>T | ENSP00000508588.1:n.-400-5483C>T | |
| ENST00000687512.1:n.131+10504C>T | ||
| ENST00000687676.1:c.-280+10504C>T | ENSP00000510313.1:n.-280+10504C>T | |
| ENST00000688892.1:c.-280+10504C>T | ENSP00000510650.1:n.-280+10504C>T | |
| XR_245195.2:n.191+10504C>T | ||
| NM_001290216.2:c.-280+10504C>T | NP_001277145.1:n.-280+10504C>T | |
| NM_001290216.3:c.-280+10504C>T | NP_001277145.1:n.-280+10504C>T |