Revel Score:
ENST00000455537 (MANE Select)
0.916
ENST00000286452
0.916
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57569015A>G , CM000674.2:g.57569015A>G | GRCh38 |
| NC_000012.11:g.57962798A>G , CM000674.1:g.57962798A>G | GRCh37 |
| NC_000012.10:g.56249065A>G | NCBI36 |
| NG_008155.1:g.23952A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.767A>G MANE Select | ENSP00000408979.2:p.Asn256Ser | |
| ENST00000674619.1:c.767A>G | ENSP00000502270.1:p.Asn256Ser | |
| ENST00000676457.1:c.662A>G | ENSP00000501588.1:p.Asn221Ser | |
| ENST00000286452.5:c.500A>G | ENSP00000286452.5:p.Asn167Ser | |
| ENST00000455537.6:c.767A>G | ENSP00000408979.2:p.Asn256Ser | |
| NM_004984.2:c.767A>G | NP_004975.2:p.Asn256Ser | |
| NM_001354705.1:c.500A>G | NP_001341634.1:p.Asn167Ser | |
| NM_004984.3:c.767A>G | NP_004975.2:p.Asn256Ser | |
| XR_002957324.1:n.1000A>G | ||
| NM_004984.4:c.767A>G MANE Select | NP_004975.2:p.Asn256Ser | |
| NM_001354705.2:c.500A>G | NP_001341634.1:p.Asn167Ser |