Revel Score:
ENST00000352241 (MANE Select)
0.731
ENST00000448226
0.731
ENST00000472437
0.731
ENST00000328528
0.731
ENST00000451708
0.731
ENST00000314589
0.731
ENST00000394355
0.731
ENST00000314557
0.731
ENST00000394351 (MANE Plus Clinical)
0.731
ENST00000531774
0.731
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69959284G>T , CM000665.2:g.69959284G>T | GRCh38 |
| NC_000003.11:g.70008435G>T , CM000665.1:g.70008435G>T | GRCh37 |
| NC_000003.10:g.70091125G>T | NCBI36 |
| NG_011631.1:g.224803G>T , LRG_776:g.224803G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.977G>T | ENSP00000324443.5:p.Trp326Leu | |
| ENST00000687384.1:c.974G>T | ENSP00000510225.1:p.Trp325Leu | |
| ENST00000689390.1:n.1199G>T | ||
| ENST00000693031.1:c.950G>T | ENSP00000509845.1:p.Trp317Leu | |
| ENST00000693549.1:c.977G>T | ENSP00000509358.1:p.Trp326Leu | |
| ENST00000314589.10:c.977G>T | ENSP00000324443.5:p.Trp326Leu | |
| ENST00000352241.9:c.1043G>T MANE Select | ENSP00000295600.8:p.Trp348Leu | |
| ENST00000394351.9:c.722G>T MANE Plus Clinical | ENSP00000377880.3:p.Trp241Leu | |
| ENST00000448226.9:c.1022G>T | ENSP00000391803.3:p.Trp341Leu | |
| ENST00000642352.1:c.1025G>T | ENSP00000494105.1:p.Trp342Leu | |
| ENST00000314557.10:c.704G>T | ENSP00000324246.6:p.Trp235Leu | |
| ENST00000314589.9:c.977G>T | ENSP00000324443.5:p.Trp326Leu | |
| ENST00000328528.10:c.1022G>T | ENSP00000327867.6:p.Trp341Leu | |
| ENST00000352241.8:c.1025G>T | ENSP00000295600.7:p.Trp342Leu | |
| ENST00000394351.7:c.722G>T | ENSP00000377880.3:p.Trp241Leu | |
| ENST00000448226.6:c.1043G>T | ENSP00000391803.2:p.Trp348Leu | |
| ENST00000451708.5:c.995G>T | ENSP00000398639.1:p.Trp332Leu | |
| ENST00000472437.5:c.869G>T | ENSP00000418845.1:p.Trp290Leu | |
| ENST00000478490.5:c.*369G>T | ENSP00000433487.1:n.*369G>T | |
| ENST00000531774.1:c.536G>T | ENSP00000435909.1:p.Trp179Leu | |
| NM_000248.3:c.722G>T , LRG_776t1:c.722G>T | NP_000239.1:p.Trp241Leu | |
| NM_001184967.1:c.869G>T | NP_001171896.1:p.Trp290Leu | |
| NM_006722.2:c.1022G>T | NP_006713.1:p.Trp341Leu | |
| NM_198158.2:c.704G>T | NP_937801.1:p.Trp235Leu | |
| NM_198159.2:c.1025G>T | NP_937802.1:p.Trp342Leu | |
| NM_198177.2:c.977G>T | NP_937820.1:p.Trp326Leu | |
| NM_198178.2:c.536G>T | NP_937821.2:p.Trp179Leu | |
| XM_005264754.1:c.1043G>T | XP_005264811.1:p.Trp348Leu | |
| XM_005264755.2:c.995G>T | XP_005264812.1:p.Trp332Leu | |
| XM_006713164.2:c.887G>T | XP_006713227.1:p.Trp296Leu | |
| XM_011533722.1:c.1040G>T | XP_011532024.1:p.Trp347Leu | |
| XM_011533723.1:c.992G>T | XP_011532025.1:p.Trp331Leu | |
| XM_011533724.1:c.887G>T | XP_011532026.1:p.Trp296Leu | |
| XM_011533725.1:c.875G>T | XP_011532027.1:p.Trp292Leu | |
| XM_011533726.1:c.857G>T | XP_011532028.1:p.Trp286Leu | |
| NM_001354604.1:c.1043G>T | NP_001341533.1:p.Trp348Leu | |
| NM_001354605.1:c.1040G>T | NP_001341534.1:p.Trp347Leu | |
| NM_001354606.1:c.1022G>T | NP_001341535.1:p.Trp341Leu | |
| NM_001354607.1:c.974G>T | NP_001341536.1:p.Trp325Leu | |
| NM_001354608.1:c.869G>T | NP_001341537.1:p.Trp290Leu | |
| NM_001184967.2:c.869G>T | NP_001171896.1:p.Trp290Leu | |
| NM_001354604.2:c.1043G>T MANE Select | NP_001341533.1:p.Trp348Leu | |
| NM_001354605.2:c.1040G>T | NP_001341534.1:p.Trp347Leu | |
| NM_001354606.2:c.1022G>T | NP_001341535.1:p.Trp341Leu | |
| NM_001354607.2:c.974G>T | NP_001341536.1:p.Trp325Leu | |
| NM_001354608.2:c.869G>T | NP_001341537.1:p.Trp290Leu | |
| NM_198158.3:c.704G>T | NP_937801.1:p.Trp235Leu | |
| NM_198159.3:c.1025G>T | NP_937802.1:p.Trp342Leu | |
| NM_198177.3:c.977G>T | NP_937820.1:p.Trp326Leu | |
| NM_198178.3:c.536G>T | NP_937821.2:p.Trp179Leu | |
| NM_000248.4:c.722G>T MANE Plus Clinical | NP_000239.1:p.Trp241Leu | |
| NM_006722.3:c.1022G>T | NP_006713.1:p.Trp341Leu |