Revel Score:
ENST00000352241 (MANE Select)
0.359
ENST00000448226
0.359
ENST00000433517
0.359
ENST00000472437
0.359
ENST00000328528
0.359
ENST00000451708
0.359
ENST00000314589
0.359
ENST00000394355
0.359
ENST00000314557
0.359
ENST00000394351 (MANE Plus Clinical)
0.359
ENST00000531774
0.359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69941245G>C , CM000665.2:g.69941245G>C | GRCh38 |
| NC_000003.11:g.69990396G>C , CM000665.1:g.69990396G>C | GRCh37 |
| NC_000003.10:g.70073086G>C | NCBI36 |
| NG_011631.1:g.206764G>C , LRG_776:g.206764G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.628G>C | ENSP00000324443.5:p.Val210Leu | |
| ENST00000687384.1:c.625G>C | ENSP00000510225.1:p.Val209Leu | |
| ENST00000689390.1:n.850G>C | ||
| ENST00000693031.1:c.601G>C | ENSP00000509845.1:p.Val201Leu | |
| ENST00000693549.1:c.628G>C | ENSP00000509358.1:p.Val210Leu | |
| ENST00000314589.10:c.628G>C | ENSP00000324443.5:p.Val210Leu | |
| ENST00000352241.9:c.676G>C MANE Select | ENSP00000295600.8:p.Val226Leu | |
| ENST00000394351.9:c.355G>C MANE Plus Clinical | ENSP00000377880.3:p.Val119Leu | |
| ENST00000448226.9:c.673G>C | ENSP00000391803.3:p.Val225Leu | |
| ENST00000642352.1:c.676G>C | ENSP00000494105.1:p.Val226Leu | |
| ENST00000314557.10:c.355G>C | ENSP00000324246.6:p.Val119Leu | |
| ENST00000314589.9:c.628G>C | ENSP00000324443.5:p.Val210Leu | |
| ENST00000328528.10:c.673G>C | ENSP00000327867.6:p.Val225Leu | |
| ENST00000352241.8:c.676G>C | ENSP00000295600.7:p.Val226Leu | |
| ENST00000394351.7:c.355G>C | ENSP00000377880.3:p.Val119Leu | |
| ENST00000433517.5:c.352G>C | ENSP00000411389.1:p.Val118Leu | |
| ENST00000448226.6:c.676G>C | ENSP00000391803.2:p.Val226Leu | |
| ENST00000451708.5:c.628G>C | ENSP00000398639.1:p.Val210Leu | |
| ENST00000461014.1:n.666G>C | ||
| ENST00000472437.5:c.520G>C | ENSP00000418845.1:p.Val174Leu | |
| ENST00000478490.5:c.*2G>C | ENSP00000433487.1:n.*2G>C | |
| ENST00000531774.1:c.187G>C | ENSP00000435909.1:p.Val63Leu | |
| NM_000248.3:c.355G>C , LRG_776t1:c.355G>C | NP_000239.1:p.Val119Leu | |
| NM_001184967.1:c.520G>C | NP_001171896.1:p.Val174Leu | |
| NM_006722.2:c.673G>C | NP_006713.1:p.Val225Leu | |
| NM_198158.2:c.355G>C | NP_937801.1:p.Val119Leu | |
| NM_198159.2:c.676G>C | NP_937802.1:p.Val226Leu | |
| NM_198177.2:c.628G>C | NP_937820.1:p.Val210Leu | |
| NM_198178.2:c.187G>C | NP_937821.2:p.Val63Leu | |
| XM_005264754.1:c.676G>C | XP_005264811.1:p.Val226Leu | |
| XM_005264755.2:c.628G>C | XP_005264812.1:p.Val210Leu | |
| XM_006713164.2:c.520G>C | XP_006713227.1:p.Val174Leu | |
| XM_011533722.1:c.673G>C | XP_011532024.1:p.Val225Leu | |
| XM_011533723.1:c.625G>C | XP_011532025.1:p.Val209Leu | |
| XM_011533724.1:c.520G>C | XP_011532026.1:p.Val174Leu | |
| XM_011533725.1:c.508G>C | XP_011532027.1:p.Val170Leu | |
| XM_011533726.1:c.508G>C | XP_011532028.1:p.Val170Leu | |
| NM_001354604.1:c.676G>C | NP_001341533.1:p.Val226Leu | |
| NM_001354605.1:c.673G>C | NP_001341534.1:p.Val225Leu | |
| NM_001354606.1:c.673G>C | NP_001341535.1:p.Val225Leu | |
| NM_001354607.1:c.625G>C | NP_001341536.1:p.Val209Leu | |
| NM_001354608.1:c.520G>C | NP_001341537.1:p.Val174Leu | |
| NM_001184967.2:c.520G>C | NP_001171896.1:p.Val174Leu | |
| NM_001354604.2:c.676G>C MANE Select | NP_001341533.1:p.Val226Leu | |
| NM_001354605.2:c.673G>C | NP_001341534.1:p.Val225Leu | |
| NM_001354606.2:c.673G>C | NP_001341535.1:p.Val225Leu | |
| NM_001354607.2:c.625G>C | NP_001341536.1:p.Val209Leu | |
| NM_001354608.2:c.520G>C | NP_001341537.1:p.Val174Leu | |
| NM_198158.3:c.355G>C | NP_937801.1:p.Val119Leu | |
| NM_198159.3:c.676G>C | NP_937802.1:p.Val226Leu | |
| NM_198177.3:c.628G>C | NP_937820.1:p.Val210Leu | |
| NM_198178.3:c.187G>C | NP_937821.2:p.Val63Leu | |
| NM_000248.4:c.355G>C MANE Plus Clinical | NP_000239.1:p.Val119Leu | |
| NM_006722.3:c.673G>C | NP_006713.1:p.Val225Leu |