COSMIC:
COSM3750725 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47531537 (EAS)
Genomes Max Group AF
0.46769654 (EAS)
Exomes Max Group AF
0.47461144 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196726612A>G , CM000663.2:g.196726612A>G | GRCh38 |
| NC_000001.10:g.196695742A>G , CM000663.1:g.196695742A>G | GRCh37 |
| NC_000001.9:g.194962365A>G | NCBI36 |
| NG_007259.1:g.79602A>G , LRG_47:g.79602A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.2282A>G | ||
| ENST00000695969.1:c.2016A>G | ENSP00000512296.1:p.Gln672= | |
| ENST00000695970.1:c.2016A>G | ENSP00000512297.1:p.Gln672= | |
| ENST00000695971.1:c.1995A>G | ENSP00000512298.1:p.Gln665= | |
| ENST00000695972.1:c.2016A>G | ENSP00000512299.1:p.Gln672= | |
| ENST00000695973.1:c.*380A>G | ENSP00000512300.1:n.*380A>G | |
| ENST00000695974.1:c.1839A>G | ENSP00000512301.1:p.Gln613= | |
| ENST00000695975.1:c.*143A>G | ENSP00000512302.1:n.*143A>G | |
| ENST00000695976.1:c.1827A>G | ENSP00000512303.1:p.Gln609= | |
| ENST00000695981.1:c.2016A>G | ENSP00000512306.1:p.Gln672= | |
| ENST00000695983.1:c.2016A>G | ENSP00000512308.1:p.Gln672= | |
| ENST00000695984.1:c.245-1734A>G | ENSP00000512309.1:n.245-1734A>G | |
| ENST00000695986.1:c.*1667A>G | ENSP00000512311.1:n.*1667A>G | |
| ENST00000696025.1:n.2100A>G | ||
| ENST00000696026.1:c.*298A>G | ENSP00000512335.1:n.*298A>G | |
| ENST00000696027.1:c.2016A>G | ENSP00000512336.1:p.Gln672= | |
| ENST00000696028.1:c.2016A>G | ENSP00000512337.1:p.Gln672= | |
| ENST00000696029.1:c.2016A>G | ENSP00000512338.1:p.Gln672= | |
| ENST00000696031.1:c.*1534A>G | ENSP00000512340.1:n.*1534A>G | |
| ENST00000696032.1:c.2016A>G | ENSP00000512341.1:p.Gln672= | |
| ENST00000696033.1:c.1159+36998A>G | ENSP00000512342.1:n.1159+36998A>G | |
| ENST00000367429.9:c.2016A>G MANE Select | ENSP00000356399.4:p.Gln672= | |
| ENST00000367429.8:c.2016A>G | ENSP00000356399.4:p.Gln672= | |
| ENST00000466229.5:n.4032A>G | ||
| NM_000186.3:c.2016A>G , LRG_47t1:c.2016A>G | NP_000177.2:p.Gln672= | |
| XR_001737134.2:n.2202A>G | ||
| NM_000186.4:c.2016A>G MANE Select | NP_000177.2:p.Gln672= |