gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96196825 (EAS)
Genomes Max Group AF
0.96196825 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58292243T>C , CM000663.2:g.58292243T>C | GRCh38 |
| NC_000001.10:g.58757915T>C , CM000663.1:g.58757915T>C | GRCh37 |
| NC_000001.9:g.58530503T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485760.5:n.309+51109A>G | ||
| NM_001379461.1:c.-453+51109A>G | NP_001366390.1:n.-453+51109A>G |