ClinVar Variation:
COSMIC:
COSM4523306
COSM4523307
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001986 (NFE)
Genomes Max Group AF
0.00006805 (NFE)
Exomes Max Group AF
0.00020346 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28477624C>T , CM000678.2:g.28477624C>T | GRCh38 |
| NC_000016.9:g.28488945C>T , CM000678.1:g.28488945C>T | GRCh37 |
| NC_000016.8:g.28396446C>T | NCBI36 |
| NG_008654.2:g.19679G>A , LRG_689:g.19679G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.1137G>A | ENSP00000329171.9:p.Glu379= | |
| ENST00000355477.10:c.1065G>A | ENSP00000347660.7:p.Glu355= | |
| ENST00000357857.14:c.1047G>A | ENSP00000350523.9:p.Glu349= | |
| ENST00000359984.12:c.1209G>A | ENSP00000353073.9:p.Glu403= | |
| ENST00000360019.8:c.1137G>A | ENSP00000353116.3:p.Glu379= | |
| ENST00000395653.9:c.750G>A | ENSP00000379014.5:p.Glu250= | |
| ENST00000561689.6:n.1622G>A | ||
| ENST00000564091.6:c.549G>A | ENSP00000454466.2:p.Glu183= | |
| ENST00000565316.6:c.1158G>A | ENSP00000456117.1:p.Glu386= | |
| ENST00000567963.6:c.1047G>A | ENSP00000455387.2:p.Glu349= | |
| ENST00000568076.6:n.1638G>A | ||
| ENST00000568422.6:c.*446G>A | ENSP00000455549.2:n.*446G>A | |
| ENST00000568452.6:n.1440G>A | ||
| ENST00000569430.7:c.1209G>A | ENSP00000454229.1:p.Glu403= | |
| ENST00000628023.3:c.*505G>A | ENSP00000486178.1:n.*505G>A | |
| ENST00000635861.1:c.*861G>A | ENSP00000490034.1:n.*861G>A | |
| ENST00000635887.1:c.1209G>A | ENSP00000490709.1:p.Glu403= | |
| ENST00000635958.1:n.1616G>A | ||
| ENST00000636017.1:c.*733G>A | ENSP00000490538.1:n.*733G>A | |
| ENST00000636078.1:n.1331G>A | ||
| ENST00000636147.2:c.1209G>A MANE Select | ENSP00000490105.1:p.Glu403= | |
| ENST00000636172.1:c.*733G>A | ENSP00000490505.1:n.*733G>A | |
| ENST00000636228.1:c.903G>A | ENSP00000489627.1:p.Glu301= | |
| ENST00000636351.1:n.1103G>A | ||
| ENST00000636503.1:c.*239G>A | ENSP00000489824.1:n.*239G>A | |
| ENST00000636766.1:c.1209G>A | ENSP00000489841.1:p.Glu403= | |
| ENST00000636839.1:n.1705G>A | ||
| ENST00000636853.1:n.2222G>A | ||
| ENST00000636866.1:c.*4G>A | ENSP00000490880.1:n.*4G>A | |
| ENST00000636907.1:n.1360G>A | ||
| ENST00000636977.1:n.2701G>A | ||
| ENST00000637050.1:n.1598G>A | ||
| ENST00000637100.1:c.1006-3362G>A | ENSP00000490394.1:n.1006-3362G>A | |
| ENST00000637107.1:c.*733G>A | ENSP00000490248.1:n.*733G>A | |
| ENST00000637184.1:c.*239G>A | ENSP00000489952.1:n.*239G>A | |
| ENST00000637299.1:c.*1018G>A | ENSP00000489823.1:n.*1018G>A | |
| ENST00000637376.1:c.*239G>A | ENSP00000490758.1:n.*239G>A | |
| ENST00000637378.1:c.228+4481G>A | ENSP00000490831.1:n.228+4481G>A | |
| ENST00000637578.1:c.*733G>A | ENSP00000490206.1:n.*733G>A | |
| ENST00000637699.1:c.1120G>A | ENSP00000490049.1:n.1120G>A | |
| ENST00000637745.1:c.646G>A | ||
| ENST00000637871.1:c.*907G>A | ENSP00000490670.1:n.*907G>A | |
| ENST00000638036.1:c.371G>A | ||
| ENST00000333496.13:c.1137G>A | ENSP00000329171.9:p.Glu379= | |
| ENST00000355477.9:c.*446G>A | ENSP00000347660.6:n.*446G>A | |
| ENST00000357806.11:c.912G>A | ENSP00000350457.7:p.Glu304= | |
| ENST00000357857.13:c.1047G>A | ENSP00000350523.9:p.Glu349= | |
| ENST00000359984.11:c.903G>A | ENSP00000353073.8:p.Glu301= | |
| ENST00000360019.6:c.1209G>A | ENSP00000353116.2:p.Glu403= | |
| ENST00000395653.8:c.909G>A | ENSP00000379014.4:p.Glu303= | |
| ENST00000561689.5:n.1178G>A | ||
| ENST00000563874.5:n.2737G>A | ||
| ENST00000564091.5:c.298G>A | ||
| ENST00000565140.5:c.1117G>A | ENSP00000455342.1:n.1117G>A | |
| ENST00000565316.5:c.1158G>A | ENSP00000456117.1:p.Glu386= | |
| ENST00000565354.5:n.522G>A | ||
| ENST00000566057.5:c.823G>A | ENSP00000456693.1:n.823G>A | |
| ENST00000567963.5:c.918G>A | ENSP00000455387.1:p.Glu306= | |
| ENST00000568076.5:n.1120G>A | ||
| ENST00000568224.4:c.975G>A | ENSP00000454253.1:p.Glu325= | |
| ENST00000568422.5:c.*446G>A | ENSP00000455549.1:n.*446G>A | |
| ENST00000568452.5:n.1337G>A | ||
| ENST00000569030.5:c.1001G>A | ENSP00000454680.1:n.1001G>A | |
| ENST00000569430.5:c.1209G>A | ENSP00000454229.1:p.Glu403= | |
| ENST00000628023.2:c.*505G>A | ENSP00000486178.1:n.*505G>A | |
| ENST00000631023.2:c.918G>A | ENSP00000486616.1:p.Glu306= | |
| NM_000086.2:c.1209G>A , LRG_689t1:c.1209G>A | NP_000077.1:p.Glu403= | |
| NM_001042432.1:c.1209G>A , LRG_689t2:c.1209G>A | NP_001035897.1:p.Glu403= | |
| NM_001286104.1:c.1137G>A | NP_001273033.1:p.Glu379= | |
| NM_001286105.1:c.909G>A | NP_001273034.1:p.Glu303= | |
| NM_001286109.1:c.975G>A | NP_001273038.1:p.Glu325= | |
| NM_001286110.1:c.1047G>A | NP_001273039.1:p.Glu349= | |
| NM_001042432.2:c.1209G>A MANE Select | NP_001035897.1:p.Glu403= | |
| NM_001286104.2:c.1137G>A | NP_001273033.1:p.Glu379= | |
| NM_001286105.2:c.909G>A | NP_001273034.1:p.Glu303= | |
| NM_001286109.2:c.975G>A | NP_001273038.1:p.Glu325= | |
| NM_001286110.2:c.1047G>A | NP_001273039.1:p.Glu349= |