gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28758817 (NFE)
Genomes Max Group AF
0.28758817 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104247765C>T , CM000672.2:g.104247765C>T | GRCh38 |
| NC_000010.10:g.106007523C>T , CM000672.1:g.106007523C>T | GRCh37 |
| NC_000010.9:g.105997513C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470554.5:n.82-4401C>T |