Revel Score:
ENST00000352241 (MANE Select)
0.263
ENST00000448226
0.263
ENST00000472437
0.263
ENST00000328528
0.263
ENST00000314589
0.263
ENST00000394355
0.263
ENST00000314557
0.263
ENST00000394351 (MANE Plus Clinical)
0.263
ENST00000531774
0.263
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022538 (MID)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00023608 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69965063G>A , CM000665.2:g.69965063G>A | GRCh38 |
| NC_000003.11:g.70014214G>A , CM000665.1:g.70014214G>A | GRCh37 |
| NC_000003.10:g.70096904G>A | NCBI36 |
| NG_011631.1:g.230582G>A , LRG_776:g.230582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1330G>A | ENSP00000324443.5:p.Glu444Lys | |
| ENST00000687384.1:c.1327G>A | ENSP00000510225.1:p.Glu443Lys | |
| ENST00000689390.1:n.1552G>A | ||
| ENST00000693031.1:c.1303G>A | ENSP00000509845.1:p.Glu435Lys | |
| ENST00000693549.1:c.*141G>A | ENSP00000509358.1:n.*141G>A | |
| ENST00000314589.10:c.1330G>A | ENSP00000324443.5:p.Glu444Lys | |
| ENST00000352241.9:c.1396G>A MANE Select | ENSP00000295600.8:p.Glu466Lys | |
| ENST00000394351.9:c.1075G>A MANE Plus Clinical | ENSP00000377880.3:p.Glu359Lys | |
| ENST00000448226.9:c.1375G>A | ENSP00000391803.3:p.Glu459Lys | |
| ENST00000642352.1:c.1378G>A | ENSP00000494105.1:p.Glu460Lys | |
| ENST00000314557.10:c.1057G>A | ENSP00000324246.6:p.Glu353Lys | |
| ENST00000314589.9:c.1330G>A | ENSP00000324443.5:p.Glu444Lys | |
| ENST00000328528.10:c.1375G>A | ENSP00000327867.6:p.Glu459Lys | |
| ENST00000352241.8:c.1378G>A | ENSP00000295600.7:p.Glu460Lys | |
| ENST00000394351.7:c.1075G>A | ENSP00000377880.3:p.Glu359Lys | |
| ENST00000448226.6:c.1396G>A | ENSP00000391803.2:p.Glu466Lys | |
| ENST00000472437.5:c.1222G>A | ENSP00000418845.1:p.Glu408Lys | |
| ENST00000478490.5:c.*722G>A | ENSP00000433487.1:n.*722G>A | |
| ENST00000531774.1:c.889G>A | ENSP00000435909.1:p.Glu297Lys | |
| NM_000248.3:c.1075G>A , LRG_776t1:c.1075G>A | NP_000239.1:p.Glu359Lys | |
| NM_001184967.1:c.1222G>A | NP_001171896.1:p.Glu408Lys | |
| NM_006722.2:c.1375G>A | NP_006713.1:p.Glu459Lys | |
| NM_198158.2:c.1057G>A | NP_937801.1:p.Glu353Lys | |
| NM_198159.2:c.1378G>A | NP_937802.1:p.Glu460Lys | |
| NM_198177.2:c.1330G>A | NP_937820.1:p.Glu444Lys | |
| NM_198178.2:c.889G>A | NP_937821.2:p.Glu297Lys | |
| XM_005264754.1:c.1396G>A | XP_005264811.1:p.Glu466Lys | |
| XM_005264755.2:c.1348G>A | XP_005264812.1:p.Glu450Lys | |
| XM_006713164.2:c.1240G>A | XP_006713227.1:p.Glu414Lys | |
| XM_011533722.1:c.1393G>A | XP_011532024.1:p.Glu465Lys | |
| XM_011533723.1:c.1345G>A | XP_011532025.1:p.Glu449Lys | |
| XM_011533724.1:c.1240G>A | XP_011532026.1:p.Glu414Lys | |
| XM_011533725.1:c.1228G>A | XP_011532027.1:p.Glu410Lys | |
| XM_011533726.1:c.1210G>A | XP_011532028.1:p.Glu404Lys | |
| NM_001354604.1:c.1396G>A | NP_001341533.1:p.Glu466Lys | |
| NM_001354605.1:c.1393G>A | NP_001341534.1:p.Glu465Lys | |
| NM_001354606.1:c.1375G>A | NP_001341535.1:p.Glu459Lys | |
| NM_001354607.1:c.1327G>A | NP_001341536.1:p.Glu443Lys | |
| NM_001354608.1:c.1222G>A | NP_001341537.1:p.Glu408Lys | |
| NM_001184967.2:c.1222G>A | NP_001171896.1:p.Glu408Lys | |
| NM_001354604.2:c.1396G>A MANE Select | NP_001341533.1:p.Glu466Lys | |
| NM_001354605.2:c.1393G>A | NP_001341534.1:p.Glu465Lys | |
| NM_001354606.2:c.1375G>A | NP_001341535.1:p.Glu459Lys | |
| NM_001354607.2:c.1327G>A | NP_001341536.1:p.Glu443Lys | |
| NM_001354608.2:c.1222G>A | NP_001341537.1:p.Glu408Lys | |
| NM_198158.3:c.1057G>A | NP_937801.1:p.Glu353Lys | |
| NM_198159.3:c.1378G>A | NP_937802.1:p.Glu460Lys | |
| NM_198177.3:c.1330G>A | NP_937820.1:p.Glu444Lys | |
| NM_198178.3:c.889G>A | NP_937821.2:p.Glu297Lys | |
| NM_000248.4:c.1075G>A MANE Plus Clinical | NP_000239.1:p.Glu359Lys | |
| NM_006722.3:c.1375G>A | NP_006713.1:p.Glu459Lys |