COSMIC:
COSM3761497 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17577149 (MID)
Genomes Max Group AF
0.16131693 (NFE)
Exomes Max Group AF
0.17729175 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137198451A>C , CM000668.2:g.137198451A>C | GRCh38 |
| NC_000006.11:g.137519588A>C , CM000668.1:g.137519588A>C | GRCh37 |
| NC_000006.10:g.137561281A>C | NCBI36 |
| NG_007394.1:g.25980T>G , LRG_66:g.25980T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414770.6:c.1020T>G | ENSP00000394230.2:p.Ser340= | |
| ENST00000458076.6:c.948T>G | ENSP00000389249.2:p.Ser316= | |
| ENST00000696693.1:c.927T>G | ENSP00000512814.1:p.Ser309= | |
| ENST00000696694.1:c.*148T>G | ENSP00000512815.1:n.*148T>G | |
| ENST00000696695.1:c.888T>G | ENSP00000512816.1:p.Ser296= | |
| ENST00000696696.1:c.*949T>G | ENSP00000512817.1:n.*949T>G | |
| ENST00000696697.1:c.996T>G | ENSP00000512818.1:p.Ser332= | |
| ENST00000367739.9:c.1050T>G MANE Select | ENSP00000356713.5:p.Ser350= | |
| ENST00000642390.1:c.993T>G | ENSP00000496468.1:p.Ser331= | |
| ENST00000643119.1:c.1170T>G | ENSP00000495934.1:n.1170T>G | |
| ENST00000644894.1:c.927T>G | ENSP00000495272.1:p.Ser309= | |
| ENST00000645045.1:c.1159T>G | ||
| ENST00000645753.1:c.927T>G | ENSP00000495103.1:p.Ser309= | |
| ENST00000646036.1:c.1020T>G | ENSP00000496387.1:p.Ser340= | |
| ENST00000646898.1:c.1020T>G | ENSP00000494069.1:p.Ser340= | |
| ENST00000647124.1:c.927T>G | ENSP00000496549.1:p.Ser309= | |
| ENST00000367739.8:c.1050T>G | ENSP00000356713.4:p.Ser350= | |
| ENST00000543628.5:c.*221T>G | ENSP00000443282.2:n.*221T>G | |
| NM_000416.2:c.1050T>G , LRG_66t1:c.1050T>G | NP_000407.1:p.Ser350= | |
| XM_006715470.2:c.1020T>G | XP_006715533.1:p.Ser340= | |
| XM_006715471.2:c.927T>G | XP_006715534.1:p.Ser309= | |
| XM_011535793.1:c.1020T>G | XP_011534095.1:p.Ser340= | |
| XM_011535794.1:c.1020T>G | XP_011534096.1:p.Ser340= | |
| NM_001363526.1:c.1020T>G | NP_001350455.1:p.Ser340= | |
| NM_001363527.1:c.927T>G | NP_001350456.1:p.Ser309= | |
| XM_006715470.3:c.1020T>G | XP_006715533.1:p.Ser340= | |
| XM_011535793.2:c.1020T>G | XP_011534095.1:p.Ser340= | |
| NM_000416.3:c.1050T>G MANE Select | NP_000407.1:p.Ser350= |