Revel Score:
ENST00000397262
0.956
ENST00000250971
0.956
ENST00000381330 (MANE Select)
0.956
ENST00000512523
0.956
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2159898C>T , CM000673.2:g.2159898C>T | GRCh38 |
| NC_000011.9:g.2181128C>T , CM000673.1:g.2181128C>T | GRCh37 |
| NC_000011.8:g.2137704C>T | NCBI36 |
| NG_007114.1:g.6297G>A | |
| NG_050578.1:g.6312G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381330.5:c.287G>A (INS) MANE Select | ENSP00000370731.5:p.Cys96Tyr | |
| ENST00000250971.7:c.287G>A (INS) | ENSP00000250971.3:p.Cys96Tyr | |
| ENST00000356578.8:c.187+887G>A (INS-IGF2) | ENSP00000348986.4:n.187+887G>A | |
| ENST00000381330.4:c.287G>A (INS) | ENSP00000370731.4:p.Cys96Tyr | |
| ENST00000397262.5:c.287G>A (INS) | ENSP00000380432.1:p.Cys96Tyr | |
| ENST00000397270.1:c.187+887G>A (INS-IGF2) | ENSP00000380440.1:n.187+887G>A | |
| ENST00000421783.1:c.188-26G>A (INS) | ENSP00000408400.1:n.188-26G>A | |
| ENST00000512523.1:c.251G>A (INS) | ENSP00000424008.1:p.Cys84Tyr | |
| NM_000207.2:c.287G>A (INS) | NP_000198.1:p.Cys96Tyr | |
| NM_001042376.2:c.187+887G>A (INS-IGF2) | NP_001035835.1:n.187+887G>A | |
| NM_001185097.1:c.287G>A (INS) | NP_001172026.1:p.Cys96Tyr | |
| NM_001185098.1:c.287G>A (INS) | NP_001172027.1:p.Cys96Tyr | |
| NM_001291897.1:c.287G>A (INS) | NP_001278826.1:p.Cys96Tyr | |
| NR_003512.3:n.246+887G>A (INS-IGF2) | ||
| NM_000207.3:c.287G>A (INS) MANE Select | NP_000198.1:p.Cys96Tyr | |
| NM_001042376.3:c.187+887G>A (INS-IGF2) | NP_001035835.1:n.187+887G>A | |
| NM_001185097.2:c.287G>A (INS) | NP_001172026.1:p.Cys96Tyr | |
| NM_001291897.2:c.287G>A (INS) | NP_001278826.1:p.Cys96Tyr | |
| NR_003512.4:n.246+887G>A (INS-IGF2) | ||
| NM_001185098.2:c.287G>A (INS) | NP_001172027.1:p.Cys96Tyr |