gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00300693 (MID)
Genomes Max Group AF
0.00086548 (AMR)
Exomes Max Group AF
0.00301501 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7550418C>G , CM000681.2:g.7550418C>G | GRCh38 |
| NC_000019.9:g.7615304C>G , CM000681.1:g.7615304C>G | GRCh37 |
| NC_000019.8:g.7521304C>G | NCBI36 |
| NG_013374.1:g.21267C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.1935C>G MANE Select | ENSP00000473211.1:p.Arg645= | |
| ENST00000221249.10:c.1818C>G | ENSP00000221249.5:p.Arg606= | |
| ENST00000414982.7:c.1962C>G | ENSP00000407509.2:p.Arg654= | |
| ENST00000450331.7:c.1818C>G | ENSP00000394348.2:p.Arg606= | |
| ENST00000545201.6:c.1740C>G | ENSP00000443323.1:p.Arg580= | |
| ENST00000594864.1:n.393C>G | ||
| ENST00000600737.5:c.1935C>G | ENSP00000473211.1:p.Arg645= | |
| NM_001166111.1:c.1962C>G | NP_001159583.1:p.Arg654= | |
| NM_001166112.1:c.1740C>G | NP_001159584.1:p.Arg580= | |
| NM_001166113.1:c.1818C>G | NP_001159585.1:p.Arg606= | |
| NM_001166114.1:c.1935C>G | NP_001159586.1:p.Arg645= | |
| NM_006702.4:c.1818C>G | NP_006693.3:p.Arg606= | |
| NM_001166111.2:c.1962C>G | NP_001159583.1:p.Arg654= | |
| NM_001166114.2:c.1935C>G MANE Select | NP_001159586.1:p.Arg645= | |
| NM_006702.5:c.1818C>G | NP_006693.3:p.Arg606= | |
| NM_001166112.2:c.1740C>G | NP_001159584.1:p.Arg580= |