Revel Score:
ENST00000361874
0.260
ENST00000394003
0.260
ENST00000393999
0.260
ENST00000407639
0.260
ENST00000409438
0.260
ENST00000409240
0.260
ENST00000409868
0.260
ENST00000409567
0.260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74363113T>A , CM000664.2:g.74363113T>A | GRCh38 |
| NC_000002.11:g.74590240T>A , CM000664.1:g.74590240T>A | GRCh37 |
| NC_000002.10:g.74443748T>A | NCBI36 |
| NG_008735.2:g.33975A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.3395A>T | ENSP00000354791.4:p.Glu1132Val | |
| ENST00000628224.3:c.3410A>T MANE Select | ENSP00000487279.2:p.Glu1137Val | |
| ENST00000680606.1:c.3359A>T | ENSP00000505612.1:p.Glu1120Val | |
| ENST00000361874.7:c.3410A>T | ENSP00000354791.3:p.Glu1137Val | |
| ENST00000394003.7:c.3389A>T | ENSP00000377571.3:p.Glu1130Val | |
| ENST00000409240.5:c.3284A>T | ENSP00000386406.1:p.Glu1095Val | |
| ENST00000409438.5:c.2993A>T | ENSP00000387270.1:p.Glu998Val | |
| ENST00000409567.7:c.3335A>T | ENSP00000386843.3:p.Glu1112Val | |
| ENST00000409868.5:c.3344A>T | ENSP00000387327.1:p.Glu1115Val | |
| ENST00000434055.5:c.*694A>T | ENSP00000416711.1:n.*694A>T | |
| ENST00000451608.2:c.149A>T | ENSP00000416453.2:p.Glu50Val | |
| ENST00000466110.5:n.4647A>T | ||
| ENST00000491465.5:n.1673A>T | ||
| ENST00000497666.1:n.97-1576A>T | ||
| ENST00000628224.2:c.3344A>T | ENSP00000487279.1:p.Glu1115Val | |
| ENST00000633691.1:c.3008A>T | ENSP00000487724.1:p.Glu1003Val | |
| NM_001135040.2:c.3335A>T | NP_001128512.1:p.Glu1112Val | |
| NM_001135041.2:c.2993A>T | NP_001128513.1:p.Glu998Val | |
| NM_001190836.1:c.3284A>T | NP_001177765.1:p.Glu1095Val | |
| NM_001190837.1:c.3389A>T | NP_001177766.1:p.Glu1130Val | |
| NM_004082.4:c.3410A>T | NP_004073.2:p.Glu1137Val | |
| NM_023019.3:c.3008A>T | NP_075408.1:p.Glu1003Val | |
| NR_033935.1:n.3679A>T | ||
| NM_001135040.3:c.3335A>T | NP_001128512.1:p.Glu1112Val | |
| NM_001135041.3:c.2993A>T | NP_001128513.1:p.Glu998Val | |
| NM_001190836.2:c.3284A>T | NP_001177765.1:p.Glu1095Val | |
| NM_001190837.2:c.3389A>T | NP_001177766.1:p.Glu1130Val | |
| NM_001378991.1:c.3359A>T | NP_001365920.1:p.Glu1120Val | |
| NM_001378992.1:c.3341A>T | NP_001365921.1:p.Glu1114Val | |
| NM_004082.5:c.3410A>T MANE Select | NP_004073.2:p.Glu1137Val | |
| NM_023019.4:c.3008A>T | NP_075408.1:p.Glu1003Val | |
| NR_033935.2:n.3458A>T |