COSMIC:
COSM3753945 (not active)
COSM3753946 (not active)
COSM3753947 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16856762 (NFE)
Genomes Max Group AF
0.16470918 (NFE)
Exomes Max Group AF
0.16868045 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800569C>G , CM000676.2:g.33800569C>G | GRCh38 |
| NC_000014.8:g.34269775C>G , CM000676.1:g.34269775C>G | GRCh37 |
| NC_000014.7:g.33339526C>G | NCBI36 |
| NG_013036.1:g.866317C>G | |
| NG_013036.2:g.866317C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2262C>G MANE Select | ENSP00000348460.4:p.Ser754= | |
| ENST00000551634.6:c.2271C>G | ENSP00000448373.2:p.Ser757= | |
| ENST00000680362.1:c.2162C>G | ||
| ENST00000681323.1:c.793+2988C>G | ||
| ENST00000346562.6:c.2166C>G | ENSP00000319610.5:p.Ser722= | |
| ENST00000356141.8:c.2262C>G | ENSP00000348460.4:p.Ser754= | |
| ENST00000357798.9:c.2223C>G | ENSP00000350446.5:p.Ser741= | |
| ENST00000548645.5:c.2172C>G | ENSP00000448916.1:p.Ser724= | |
| ENST00000551492.5:c.2277C>G | ENSP00000450392.1:p.Ser759= | |
| ENST00000551634.5:c.2184C>G | ENSP00000448373.1:p.Ser728= | |
| NM_001164749.1:c.2262C>G | NP_001158221.1:p.Ser754= | |
| NM_001165893.1:c.2172C>G | NP_001159365.1:p.Ser724= | |
| NM_022123.2:c.2166C>G | NP_071406.1:p.Ser722= | |
| NM_173159.2:c.2223C>G | NP_775182.1:p.Ser741= | |
| XM_005267991.2:c.2283C>G | XP_005268048.1:p.Ser761= | |
| XM_005267992.2:c.2277C>G | XP_005268049.1:p.Ser759= | |
| XM_005267993.2:c.2223C>G | XP_005268050.1:p.Ser741= | |
| XM_011537067.1:c.2313C>G | XP_011535369.1:p.Ser771= | |
| XM_011537068.1:c.2304C>G | XP_011535370.1:p.Ser768= | |
| XM_011537069.1:c.2274C>G | XP_011535371.1:p.Ser758= | |
| XM_011537070.1:c.2217C>G | XP_011535372.1:p.Ser739= | |
| XM_011537071.1:c.2184C>G | XP_011535373.1:p.Ser728= | |
| XM_011537072.1:c.2163C>G | XP_011535374.1:p.Ser721= | |
| XM_011537073.1:c.1956C>G | XP_011535375.1:p.Ser652= | |
| XM_011537074.1:c.1956C>G | XP_011535376.1:p.Ser652= | |
| XM_005267991.3:c.2370C>G | XP_005268048.2:p.Ser790= | |
| XM_005267992.3:c.2364C>G | XP_005268049.2:p.Ser788= | |
| XM_011537067.2:c.2313C>G | XP_011535369.1:p.Ser771= | |
| XM_011537069.2:c.2361C>G | XP_011535371.2:p.Ser787= | |
| XM_011537070.2:c.2217C>G | XP_011535372.1:p.Ser739= | |
| XM_011537071.2:c.2271C>G | XP_011535373.2:p.Ser757= | |
| XM_011537072.2:c.2163C>G | XP_011535374.1:p.Ser721= | |
| XM_017021582.1:c.2421C>G | XP_016877071.1:p.Ser807= | |
| XM_017021583.1:c.2412C>G | XP_016877072.1:p.Ser804= | |
| XM_017021584.1:c.2331C>G | XP_016877073.1:p.Ser777= | |
| XM_017021585.1:c.2280C>G | XP_016877074.1:p.Ser760= | |
| XM_017021586.1:c.1956C>G | XP_016877075.1:p.Ser652= | |
| XM_017021587.1:c.1956C>G | XP_016877076.1:p.Ser652= | |
| XM_017021588.1:c.1956C>G | XP_016877077.1:p.Ser652= | |
| NM_001164749.2:c.2262C>G MANE Select | NP_001158221.1:p.Ser754= | |
| NM_001165893.2:c.2172C>G | NP_001159365.1:p.Ser724= | |
| NM_022123.3:c.2166C>G | NP_071406.1:p.Ser722= | |
| NM_173159.3:c.2223C>G | NP_775182.1:p.Ser741= | |
| NM_001394988.1:c.2217C>G | NP_001381917.1:p.Ser739= | |
| NM_001394989.1:c.2163C>G | NP_001381918.1:p.Ser721= |