gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39726561 (EAS)
Genomes Max Group AF
0.39726561 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12620587A>G , CM000674.2:g.12620587A>G | GRCh38 |
| NC_000012.11:g.12773521A>G , CM000674.1:g.12773521A>G | GRCh37 |
| NC_000012.10:g.12664788A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228865.3:c.15+8400A>G MANE Select | ENSP00000228865.2:n.15+8400A>G | |
| ENST00000228865.2:c.15+8400A>G | ENSP00000228865.2:n.15+8400A>G | |
| ENST00000540224.1:n.361+8400A>G | ||
| NM_001310.3:c.15+8400A>G | NP_001301.1:n.15+8400A>G | |
| NM_001310.4:c.15+8400A>G MANE Select | NP_001301.1:n.15+8400A>G |