Revel Score:
ENST00000367322
0.606
ENST00000367318
0.606
ENST00000458432
0.606
ENST00000421663
0.606
ENST00000236918
0.606
ENST00000367317
0.606
ENST00000367315
0.606
ENST00000360372
0.606
ENST00000357848
0.606
ENST00000367319
0.606
ENST00000367320
0.606
ENST00000509001
0.606
ENST00000438742
0.606
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201363348C>A , CM000663.2:g.201363348C>A | GRCh38 |
| NC_000001.10:g.201332476C>A , CM000663.1:g.201332476C>A | GRCh37 |
| NC_000001.9:g.199599099C>A | NCBI36 |
| NG_007556.1:g.19330G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455702.7:c.533G>T | ENSP00000402238.3:p.Arg178Leu | |
| ENST00000367318.10:c.518G>T | ENSP00000356287.5:p.Arg173Leu | |
| ENST00000367322.6:c.515G>T | ENSP00000356291.2:p.Arg172Leu | |
| ENST00000412633.3:c.518G>T | ENSP00000408731.2:p.Arg173Leu | |
| ENST00000422165.6:c.548G>T | ENSP00000395163.2:p.Arg183Leu | |
| ENST00000438742.6:c.500G>T | ENSP00000414036.2:p.Arg167Leu | |
| ENST00000455702.6:c.533G>T | ENSP00000402238.2:p.Arg178Leu | |
| ENST00000651504.1:n.1012G>T | ||
| ENST00000656932.1:c.548G>T MANE Select | ENSP00000499593.1:p.Arg183Leu | |
| ENST00000658476.1:c.518G>T | ENSP00000499741.1:p.Arg173Leu | |
| ENST00000660295.1:c.518G>T | ENSP00000499418.1:p.Arg173Leu | |
| ENST00000662159.1:c.163-1349G>T | ENSP00000499796.1:n.163-1349G>T | |
| ENST00000663843.1:c.*448G>T | ENSP00000499590.1:n.*448G>T | |
| ENST00000666449.1:c.518G>T | ENSP00000499667.1:p.Arg173Leu | |
| ENST00000236918.11:c.548G>T | ENSP00000236918.8:p.Arg183Leu | |
| ENST00000360372.8:c.428G>T | ENSP00000353535.5:p.Arg143Leu | |
| ENST00000367315.6:c.524G>T | ENSP00000356284.3:p.Arg175Leu | |
| ENST00000367317.8:c.503G>T | ENSP00000356286.5:p.Arg168Leu | |
| ENST00000367318.9:c.518G>T | ENSP00000356287.5:p.Arg173Leu | |
| ENST00000367320.6:c.428G>T | ENSP00000356289.2:p.Arg143Leu | |
| ENST00000367322.5:c.518G>T | ENSP00000356291.1:p.Arg173Leu | |
| ENST00000421663.6:c.341G>T | ENSP00000404134.3:p.Arg114Leu | |
| ENST00000438742.5:c.503G>T | ENSP00000414036.1:p.Arg168Leu | |
| ENST00000458432.6:c.341G>T | ENSP00000387874.3:p.Arg114Leu | |
| ENST00000460780.5:n.841G>T | ||
| ENST00000466570.5:n.774G>T | ||
| ENST00000476888.5:n.3G>T | ||
| ENST00000491504.5:n.1757G>T | ||
| ENST00000509001.5:c.518G>T | ENSP00000422031.1:p.Arg173Leu | |
| ENST00000515042.5:n.444G>T | ||
| NM_000364.3:c.548G>T | NP_000355.2:p.Arg183Leu | |
| NM_001001430.2:c.518G>T | NP_001001430.1:p.Arg173Leu | |
| NM_001001431.2:c.518G>T | NP_001001431.1:p.Arg173Leu | |
| NM_001001432.2:c.503G>T | NP_001001432.1:p.Arg168Leu | |
| NM_001276345.1:c.548G>T | NP_001263274.1:p.Arg183Leu | |
| NM_001276346.1:c.428G>T | NP_001263275.1:p.Arg143Leu | |
| NM_001276347.1:c.518G>T | NP_001263276.1:p.Arg173Leu | |
| XM_006711508.2:c.518G>T | XP_006711571.1:p.Arg173Leu | |
| XM_006711509.2:c.515G>T | XP_006711572.1:p.Arg172Leu | |
| XM_011509938.1:c.548G>T | XP_011508240.1:p.Arg183Leu | |
| XM_011509939.1:c.545G>T | XP_011508241.1:p.Arg182Leu | |
| XM_011509940.1:c.548G>T | XP_011508242.1:p.Arg183Leu | |
| XM_011509941.1:c.545G>T | XP_011508243.1:p.Arg182Leu | |
| XM_011509942.1:c.503G>T | XP_011508244.1:p.Arg168Leu | |
| XM_011509943.1:c.503G>T | XP_011508245.1:p.Arg168Leu | |
| XM_011509944.1:c.500G>T | XP_011508246.1:p.Arg167Leu | |
| XM_011509946.1:c.341G>T | XP_011508248.1:p.Arg114Leu | |
| XM_006711508.3:c.518G>T | XP_006711571.1:p.Arg173Leu | |
| XM_006711509.3:c.515G>T | XP_006711572.1:p.Arg172Leu | |
| XM_011509938.2:c.548G>T | XP_011508240.1:p.Arg183Leu | |
| XM_011509940.2:c.548G>T | XP_011508242.1:p.Arg183Leu | |
| XM_011509941.2:c.545G>T | XP_011508243.1:p.Arg182Leu | |
| XM_011509942.2:c.503G>T | XP_011508244.1:p.Arg168Leu | |
| XM_011509943.2:c.503G>T | XP_011508245.1:p.Arg168Leu | |
| XM_011509944.2:c.500G>T | XP_011508246.1:p.Arg167Leu | |
| XM_017002216.2:c.518G>T | XP_016857705.1:p.Arg173Leu | |
| XM_017002217.1:c.518G>T | XP_016857706.1:p.Arg173Leu | |
| XM_024449450.1:c.548G>T | XP_024305218.1:p.Arg183Leu | |
| XM_024449454.1:c.515G>T | XP_024305222.1:p.Arg172Leu | |
| XM_024449455.1:c.518G>T | XP_024305223.1:p.Arg173Leu | |
| NM_000364.4:c.548G>T | NP_000355.2:p.Arg183Leu | |
| NM_001001430.3:c.518G>T | NP_001001430.1:p.Arg173Leu | |
| NM_001001431.3:c.518G>T | NP_001001431.1:p.Arg173Leu | |
| NM_001001432.3:c.503G>T | NP_001001432.1:p.Arg168Leu | |
| NM_001276345.2:c.548G>T MANE Select | NP_001263274.1:p.Arg183Leu | |
| NM_001276346.2:c.428G>T | NP_001263275.1:p.Arg143Leu | |
| NM_001276347.2:c.518G>T | NP_001263276.1:p.Arg173Leu |