gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50726836 (MID)
Genomes Max Group AF
0.48823533 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78849442T>C , CM000677.2:g.78849442T>C | GRCh38 |
| NC_000015.9:g.79141784T>C , CM000677.1:g.79141784T>C | GRCh37 |
| NC_000015.8:g.76928839T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379535.8:c.115+8767T>C | ENSP00000368850.4:n.115+8767T>C | |
| ENST00000559697.5:n.415+1361T>C |