gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97628247 (EAS)
Genomes Max Group AF
0.97628247 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102725332C>T , CM000673.2:g.102725332C>T | GRCh38 |
| NC_000011.9:g.102596063C>T , CM000673.1:g.102596063C>T | GRCh37 |
| NC_000011.8:g.102101273C>T | NCBI36 |
| NG_012101.1:g.4623G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528662.6:c.-148-329G>A | ENSP00000431431.2:n.-148-329G>A |