gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33832644 (NFE)
Genomes Max Group AF
0.33832644 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109313625A>G , CM000668.2:g.109313625A>G | GRCh38 |
| NC_000006.11:g.109634828A>G , CM000668.1:g.109634828A>G | GRCh37 |
| NC_000006.10:g.109741521A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689724.1:n.621-438A>G | ||
| ENST00000691019.1:n.908-438A>G | ||
| ENST00000691264.1:n.464-438A>G | ||
| ENST00000368966.10:n.4603-438A>G | ||
| ENST00000638844.1:n.859-438A>G | ||
| ENST00000368966.8:n.859-438A>G | ||
| ENST00000506861.1:n.348+3971A>G | ||
| ENST00000508210.1:n.386-438A>G | ||
| NR_152435.1:n.4571-438A>G |