gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24028186 (EAS)
Genomes Max Group AF
0.24028186 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.72388262C>T , CM000665.2:g.72388262C>T | GRCh38 |
| NC_000003.11:g.72437413C>T , CM000665.1:g.72437413C>T | GRCh37 |
| NC_000003.10:g.72520103C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477973.5:c.127-8835G>A | ||
| ENST00000477973.4:c.129-8835G>A | ENSP00000419494.3:n.129-8835G>A | |
| ENST00000477973.2:c.424-8835G>A |