gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5827015 (EAS)
Genomes Max Group AF
0.5827015 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102809498C>T , CM000673.2:g.102809498C>T | GRCh38 |
| NC_000011.9:g.102680229C>T , CM000673.1:g.102680229C>T | GRCh37 |
| NC_000011.8:g.102185439C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371455.7:n.423+11376C>T | ||
| ENST00000525739.6:n.682+11376C>T | ||
| ENST00000544704.1:n.443+11376C>T | ||
| NR_038390.1:n.682+11376C>T |