Revel Score:
ENST00000368301
0.680
ENST00000347559
0.680
ENST00000361308
0.680
ENST00000368300 (MANE Select)
0.680
ENST00000368299
0.680
ENST00000292302
0.680
ENST00000392355
0.680
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156115048G>T , CM000663.2:g.156115048G>T | GRCh38 |
| NC_000001.10:g.156084839G>T , CM000663.1:g.156084839G>T | GRCh37 |
| NC_000001.9:g.154351463G>T | NCBI36 |
| NG_008692.2:g.37476G>T , LRG_254:g.37476G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682650.1:c.130G>T | ENSP00000506904.1:p.Val44Phe | |
| ENST00000683032.1:c.130G>T | ENSP00000506771.1:p.Val44Phe | |
| ENST00000684195.1:c.130G>T | ENSP00000508220.1:p.Val44Phe | |
| ENST00000361308.9:c.130G>T | ENSP00000355292.6:p.Val44Phe | |
| ENST00000368300.9:c.130G>T MANE Select | ENSP00000357283.4:p.Val44Phe | |
| ENST00000496738.6:n.505G>T | ||
| ENST00000674518.1:c.130G>T | ENSP00000502261.1:p.Val44Phe | |
| ENST00000674600.1:c.130G>T | ENSP00000501666.1:p.Val44Phe | |
| ENST00000674720.1:c.130G>T | ENSP00000502798.1:p.Val44Phe | |
| ENST00000675455.1:c.84-43G>T | ENSP00000501795.1:n.84-43G>T | |
| ENST00000675667.1:c.130G>T | ENSP00000501803.1:p.Val44Phe | |
| ENST00000675874.1:c.130G>T | ENSP00000501851.1:p.Val44Phe | |
| ENST00000675881.1:c.130G>T | ENSP00000501670.1:p.Val44Phe | |
| ENST00000675939.1:c.130G>T | ENSP00000502256.1:p.Val44Phe | |
| ENST00000675989.1:n.505G>T | ||
| ENST00000676208.1:c.130G>T | ENSP00000502468.1:p.Val44Phe | |
| ENST00000676283.1:n.505G>T | ||
| ENST00000676385.2:c.130G>T | ENSP00000502091.1:p.Val44Phe | |
| ENST00000676434.1:c.130G>T | ENSP00000501648.1:p.Val44Phe | |
| ENST00000677389.1:c.130G>T MANE Plus Clinical | ENSP00000503633.1:p.Val44Phe | |
| ENST00000347559.6:c.130G>T | ENSP00000292304.3:p.Val44Phe | |
| ENST00000361308.8:c.130G>T | ENSP00000355292.5:p.Val44Phe | |
| ENST00000368299.7:c.130G>T | ENSP00000357282.3:p.Val44Phe | |
| ENST00000368300.8:c.130G>T | ENSP00000357283.4:p.Val44Phe | |
| ENST00000368301.6:c.130G>T | ENSP00000357284.2:p.Val44Phe | |
| ENST00000469565.6:n.164G>T | ||
| ENST00000470199.2:n.338G>T | ||
| ENST00000502751.5:n.329-15569G>T | ||
| NM_001282625.1:c.130G>T | NP_001269554.1:p.Val44Phe | |
| NM_001282626.1:c.130G>T | NP_001269555.1:p.Val44Phe | |
| NM_005572.3:c.130G>T , LRG_254t1:c.130G>T | NP_005563.1:p.Val44Phe | |
| NM_170707.3:c.130G>T | NP_733821.1:p.Val44Phe | |
| NM_170708.3:c.130G>T | NP_733822.1:p.Val44Phe | |
| XR_921781.1:n.379G>T | ||
| XR_921781.2:n.377G>T | ||
| NM_170707.4:c.130G>T MANE Select | NP_733821.1:p.Val44Phe | |
| NM_001282626.2:c.130G>T | NP_001269555.1:p.Val44Phe | |
| NM_001282625.2:c.130G>T | NP_001269554.1:p.Val44Phe | |
| NM_005572.4:c.130G>T MANE Plus Clinical | NP_005563.1:p.Val44Phe | |
| NM_170708.4:c.130G>T | NP_733822.1:p.Val44Phe |