gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37230123 (AFR)
Genomes Max Group AF
0.37230123 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34776108C>T , CM000677.2:g.34776108C>T | GRCh38 |
| NC_000015.9:g.35068309C>T , CM000677.1:g.35068309C>T | GRCh37 |
| NC_000015.8:g.32855601C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120329.1:n.139-1163C>T |