gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36314555 (EAS)
Genomes Max Group AF
0.36314555 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52029018C>T , CM000681.2:g.52029018C>T | GRCh38 |
| NC_000019.9:g.52532271C>T , CM000681.1:g.52532271C>T | GRCh37 |
| NC_000019.8:g.57224083C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597952.1:c.-217+838G>A | ENSP00000469809.1:n.-217+838G>A | |
| XR_002958414.1:n.2470C>T |