gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35827157 (EAS)
Genomes Max Group AF
0.35827157 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139197551C>T , CM000665.2:g.139197551C>T | GRCh38 |
| NC_000003.11:g.138916393C>T , CM000665.1:g.138916393C>T | GRCh37 |
| NC_000003.10:g.140399083C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495075.5:c.-72+17191C>T | ENSP00000418008.1:n.-72+17191C>T | |
| ENST00000495225.1:c.82+34341C>T | ENSP00000417104.1:n.82+34341C>T |