gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8295218 (NFE)
Genomes Max Group AF
0.8295218 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133524462C>T , CM000672.2:g.133524462C>T | GRCh38 |
| NC_000010.10:g.135337966C>T , CM000672.1:g.135337966C>T | GRCh37 |
| NC_000010.9:g.135187956C>T | NCBI36 |
| NG_008383.1:g.2100C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463117.6:c.-117-2334C>T | ENSP00000440689.1:n.-117-2334C>T | |
| XR_001747676.2:n.2344G>A |