ClinVar Variation:
dbSNP:
Revel Score:
ENST00000372435 (MANE Select)
0.686
ENST00000372428
0.686
ENST00000543248
0.686
ENST00000372418
0.686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107647731A>C , CM000685.2:g.107647731A>C | GRCh38 |
| NC_000023.10:g.106890961A>C , CM000685.1:g.106890961A>C | GRCh37 |
| NC_000023.9:g.106777617A>C | NCBI36 |
| NG_008407.1:g.24308A>C , LRG_264:g.24308A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372418.4:c.731A>C | ENSP00000361495.2:p.Gln244Pro | |
| ENST00000372428.9:c.126A>C | ||
| ENST00000372435.10:c.830A>C MANE Select | ENSP00000361512.4:p.Gln277Pro | |
| ENST00000643795.2:c.801+29A>C | ENSP00000496286.1:n.801+29A>C | |
| ENST00000644642.1:c.*299A>C | ENSP00000495493.1:n.*299A>C | |
| ENST00000674826.1:c.*523A>C | ENSP00000502278.1:n.*523A>C | |
| ENST00000675046.1:c.484A>C | ||
| ENST00000675082.1:c.251A>C | ENSP00000502347.1:p.Gln84Pro | |
| ENST00000675124.1:c.493A>C | ENSP00000502439.1:n.493A>C | |
| ENST00000675353.1:c.422A>C | ||
| ENST00000675630.1:c.489A>C | ENSP00000502050.1:n.489A>C | |
| ENST00000675875.1:c.21+2534A>C | ||
| ENST00000676092.1:c.359-2209A>C | ENSP00000502780.1:n.359-2209A>C | |
| ENST00000676365.1:c.398A>C | ||
| ENST00000372418.2:c.530A>C | ENSP00000361495.1:p.Gln177Pro | |
| ENST00000372428.8:c.218A>C | ENSP00000361505.5:p.Gln73Pro | |
| ENST00000372435.8:c.830A>C | ENSP00000361512.4:p.Gln277Pro | |
| NM_001204402.1:c.218A>C | NP_001191331.1:p.Gln73Pro | |
| NM_002764.3:c.830A>C , LRG_264t1:c.830A>C | NP_002755.1:p.Gln277Pro | |
| NM_002764.4:c.830A>C MANE Select | NP_002755.1:p.Gln277Pro | |
| NM_001204402.2:c.218A>C | NP_001191331.1:p.Gln73Pro |