gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73735555 (EAS)
Genomes Max Group AF
0.73735555 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.57931198A>G , CM000676.2:g.57931198A>G | GRCh38 |
| NC_000014.8:g.58397916A>G , CM000676.1:g.58397916A>G | GRCh37 |
| NC_000014.7:g.57467669A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556568.1:n.282+50715T>C | ||
| XM_011536723.1:c.64+50715T>C | XP_011535025.1:n.64+50715T>C | |
| XM_011536723.3:c.64+50715T>C | XP_011535025.1:n.64+50715T>C |