ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000372435 (MANE Select)
0.826
ENST00000372428
0.826
ENST00000543248
0.826
ENST00000372418
0.826
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107650000G>T , CM000685.2:g.107650000G>T | GRCh38 |
| NC_000023.10:g.106893230G>T , CM000685.1:g.106893230G>T | GRCh37 |
| NC_000023.9:g.106779886G>T | NCBI36 |
| NG_008407.1:g.26577G>T , LRG_264:g.26577G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372418.4:c.826G>T | ENSP00000361495.2:p.Val276Phe | |
| ENST00000372428.9:c.308G>T | ||
| ENST00000372435.10:c.925G>T MANE Select | ENSP00000361512.4:p.Val309Phe | |
| ENST00000643795.2:c.802-578G>T | ENSP00000496286.1:n.802-578G>T | |
| ENST00000644642.1:c.*394G>T | ENSP00000495493.1:n.*394G>T | |
| ENST00000674826.1:c.*618G>T | ENSP00000502278.1:n.*618G>T | |
| ENST00000675263.1:c.61G>T | ENSP00000502081.1:p.Val21Phe | |
| ENST00000675353.1:c.517G>T | ||
| ENST00000675875.1:c.22-616G>T | ||
| ENST00000676092.1:c.*53G>T | ENSP00000502780.1:n.*53G>T | |
| ENST00000676322.1:c.61G>T | ENSP00000501977.1:p.Val21Phe | |
| ENST00000676365.1:c.493G>T | ||
| ENST00000372418.2:c.625G>T | ENSP00000361495.1:p.Val209Phe | |
| ENST00000372428.8:c.313G>T | ENSP00000361505.5:p.Val105Phe | |
| ENST00000372435.8:c.925G>T | ENSP00000361512.4:p.Val309Phe | |
| NM_001204402.1:c.313G>T | NP_001191331.1:p.Val105Phe | |
| NM_002764.3:c.925G>T , LRG_264t1:c.925G>T | NP_002755.1:p.Val309Phe | |
| NM_002764.4:c.925G>T MANE Select | NP_002755.1:p.Val309Phe | |
| NM_001204402.2:c.313G>T | NP_001191331.1:p.Val105Phe |