ClinVar Variation:
COSMIC:
dbSNP:
Revel Score:
ENST00000396659 (MANE Select)
0.066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45369496G>A , CM000677.2:g.45369496G>A | GRCh38 |
| NC_000015.9:g.45661694G>A , CM000677.1:g.45661694G>A | GRCh37 |
| NC_000015.8:g.43448986G>A | NCBI36 |
| NG_011674.1:g.14287C>T | |
| NG_011674.2:g.37822C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.314C>T MANE Select | ENSP00000379895.3:p.Pro105Leu | |
| ENST00000674905.1:c.314C>T | ENSP00000502176.1:p.Pro105Leu | |
| ENST00000675158.1:c.314C>T | ENSP00000501737.1:p.Pro105Leu | |
| ENST00000675323.1:c.314C>T | ENSP00000502445.1:p.Pro105Leu | |
| ENST00000675701.1:c.254C>T | ENSP00000502671.1:p.Pro85Leu | |
| ENST00000675974.1:n.405C>T | ||
| ENST00000676090.1:c.*1045C>T | ENSP00000501630.1:n.*1045C>T | |
| ENST00000396659.7:c.314C>T | ENSP00000379895.3:p.Pro105Leu | |
| ENST00000558118.1:c.*119C>T | ENSP00000452971.1:n.*119C>T | |
| ENST00000558163.1:c.95C>T | ENSP00000453781.1:p.Pro32Leu | |
| ENST00000558336.5:c.314C>T | ENSP00000454008.1:p.Pro105Leu | |
| ENST00000558362.5:n.1970C>T | ||
| ENST00000558537.5:c.-74C>T | ENSP00000453151.1:n.-74C>T | |
| ENST00000558916.1:n.212C>T | ||
| ENST00000559885.1:c.-74C>T | ENSP00000453087.1:n.-74C>T | |
| ENST00000561148.5:c.-74C>T | ENSP00000453860.1:n.-74C>T | |
| NM_001482.2:c.314C>T | NP_001473.1:p.Pro105Leu | |
| XM_011521450.1:c.362C>T | XP_011519752.1:p.Pro121Leu | |
| XM_011521451.1:c.356C>T | XP_011519753.1:p.Pro119Leu | |
| NM_001321015.1:c.-74C>T | NP_001307944.1:n.-74C>T | |
| NM_001482.3:c.314C>T MANE Select | NP_001473.1:p.Pro105Leu | |
| NM_001321015.2:c.-74C>T | NP_001307944.1:n.-74C>T |