gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19417772 (EAS)
Genomes Max Group AF
0.19417772 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133526341C>T , CM000672.2:g.133526341C>T | GRCh38 |
| NC_000010.10:g.135339845C>T , CM000672.1:g.135339845C>T | GRCh37 |
| NC_000010.9:g.135189835C>T | NCBI36 |
| NG_008383.1:g.3979C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463117.6:c.-117-455C>T | ENSP00000440689.1:n.-117-455C>T | |
| ENST00000541261.1:c.-117-455C>T | ENSP00000437799.1:n.-117-455C>T | |
| XR_001747676.2:n.465G>A |