gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63320255 (EAS)
Genomes Max Group AF
0.63320255 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102798581A>T , CM000673.2:g.102798581A>T | GRCh38 |
| NC_000011.9:g.102669312A>T , CM000673.1:g.102669312A>T | GRCh37 |
| NC_000011.8:g.102174522A>T | NCBI36 |
| NG_011740.1:g.4655T>A | |
| NG_011740.2:g.4655T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371455.7:n.423+459A>T | ||
| ENST00000525739.6:n.682+459A>T | ||
| ENST00000544704.1:n.443+459A>T | ||
| NR_038390.1:n.682+459A>T |