ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000372435 (MANE Select)
0.913
ENST00000372428
0.913
ENST00000372419
0.913
ENST00000543248
0.913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107640932G>T , CM000685.2:g.107640932G>T | GRCh38 |
| NC_000023.10:g.106884162G>T , CM000685.1:g.106884162G>T | GRCh37 |
| NC_000023.9:g.106770818G>T | NCBI36 |
| NG_008407.1:g.17509G>T , LRG_264:g.17509G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372418.4:c.307-1434G>T | ENSP00000361495.2:n.307-1434G>T | |
| ENST00000372435.10:c.337G>T MANE Select | ENSP00000361512.4:p.Ala113Ser | |
| ENST00000643795.2:c.337G>T | ENSP00000496286.1:p.Ala113Ser | |
| ENST00000644642.1:c.123-4245G>T | ENSP00000495493.1:n.123-4245G>T | |
| ENST00000645903.1:n.431G>T | ||
| ENST00000674525.1:n.422G>T | ||
| ENST00000674826.1:c.*30G>T | ENSP00000502278.1:n.*30G>T | |
| ENST00000675046.1:c.184+1454G>T | ||
| ENST00000675720.1:c.213G>T | ||
| ENST00000676092.1:c.337G>T | ENSP00000502780.1:p.Ala113Ser | |
| ENST00000372418.2:c.106-1434G>T | ENSP00000361495.1:n.106-1434G>T | |
| ENST00000372419.3:c.337G>T | ENSP00000361496.3:p.Ala113Ser | |
| ENST00000372428.8:c.-82-4245G>T | ENSP00000361505.5:n.-82-4245G>T | |
| ENST00000372435.8:c.337G>T | ENSP00000361512.4:p.Ala113Ser | |
| NM_001204402.1:c.-82-4245G>T | NP_001191331.1:n.-82-4245G>T | |
| NM_002764.3:c.337G>T , LRG_264t1:c.337G>T | NP_002755.1:p.Ala113Ser | |
| NM_002764.4:c.337G>T MANE Select | NP_002755.1:p.Ala113Ser | |
| NM_001204402.2:c.-82-4245G>T | NP_001191331.1:n.-82-4245G>T |