gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88482088 (EAS)
Genomes Max Group AF
0.85672291 (EAS)
Exomes Max Group AF
0.88628453 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43575535G>A , CM000681.2:g.43575535G>A | GRCh38 |
| NC_000019.9:g.44079687G>A , CM000681.1:g.44079687G>A | GRCh37 |
| NC_000019.8:g.48771527G>A | NCBI36 |
| NG_033799.1:g.5044C>T , LRG_784:g.5044C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.9:c.-77C>T | ENSP00000262887.4:n.-77C>T | |
| ENST00000543982.5:c.-77C>T | ENSP00000443671.1:n.-77C>T | |
| ENST00000594374.1:c.170-14515C>T | ||
| ENST00000598165.5:c.73-533C>T | ENSP00000470045.1:n.73-533C>T | |
| ENST00000599693.5:c.70+4830C>T | ||
| NM_006297.2:c.-77C>T , LRG_784t1:c.-77C>T | NP_006288.2:n.-77C>T |