gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22774414 (EAS)
Genomes Max Group AF
0.22774414 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2160530C>A , CM000681.2:g.2160530C>A | GRCh38 |
| NC_000019.9:g.2160529C>A , CM000681.1:g.2160529C>A | GRCh37 |
| NC_000019.8:g.2111529C>A | NCBI36 |
| NG_029793.1:g.1382C>A | |
| NG_052886.2:g.8939G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643010.1:c.-103+3826G>T | ENSP00000494100.1:n.-103+3826G>T | |
| ENST00000591284.2:n.110+3826G>T |