gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00132642 (EAS)
Genomes Max Group AF
0.0002635 (EAS)
Exomes Max Group AF
0.00140815 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94010802T>C , CM000663.2:g.94010802T>C | GRCh38 |
| NC_000001.10:g.94476358T>C , CM000663.1:g.94476358T>C | GRCh37 |
| NC_000001.9:g.94248946T>C | NCBI36 |
| NG_009073.1:g.115348A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5712A>G MANE Select | ENSP00000359245.3:p.Gln1904= | |
| ENST00000370225.3:c.5712A>G | ENSP00000359245.3:p.Gln1904= | |
| ENST00000465352.1:n.128A>G | ||
| ENST00000536513.5:c.2088A>G | ENSP00000439707.2:p.Gln696= | |
| NM_000350.2:c.5712A>G | NP_000341.2:p.Gln1904= | |
| NM_000350.3:c.5712A>G MANE Select | NP_000341.2:p.Gln1904= |