gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9753681 (EAS)
Genomes Max Group AF
0.9753681 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100741814C>T , CM000672.2:g.100741814C>T | GRCh38 |
| NC_000010.10:g.102501571C>T , CM000672.1:g.102501571C>T | GRCh37 |
| NC_000010.9:g.102491561C>T | NCBI36 |
| NG_008680.1:g.1104C>T | |
| NG_008680.2:g.11106C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707078.1:c.26-4379C>T | ENSP00000516729.1:n.26-4379C>T | |
| ENST00000679374.1:c.25+6081C>T | ENSP00000506041.1:n.25+6081C>T | |
| ENST00000553492.5:n.131+6081C>T | ||
| NM_001304569.1:c.26-4379C>T | NP_001291498.1:n.26-4379C>T | |
| NM_001304569.2:c.26-4379C>T | NP_001291498.1:n.26-4379C>T | |
| NM_001374303.1:c.26-4379C>T | NP_001361232.1:n.26-4379C>T |