Revel Score:
ENST00000455537 (MANE Select)
0.924
ENST00000286452
0.924
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57567515G>A , CM000674.2:g.57567515G>A | GRCh38 |
| NC_000012.11:g.57961298G>A , CM000674.1:g.57961298G>A | GRCh37 |
| NC_000012.10:g.56247565G>A | NCBI36 |
| NG_008155.1:g.22452G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.611G>A MANE Select | ENSP00000408979.2:p.Arg204Gln | |
| ENST00000674619.1:c.611G>A | ENSP00000502270.1:p.Arg204Gln | |
| ENST00000676457.1:c.506G>A | ENSP00000501588.1:p.Arg169Gln | |
| ENST00000286452.5:c.344G>A | ENSP00000286452.5:p.Arg115Gln | |
| ENST00000455537.6:c.611G>A | ENSP00000408979.2:p.Arg204Gln | |
| NM_004984.2:c.611G>A | NP_004975.2:p.Arg204Gln | |
| NM_001354705.1:c.344G>A | NP_001341634.1:p.Arg115Gln | |
| NM_004984.3:c.611G>A | NP_004975.2:p.Arg204Gln | |
| XR_002957324.1:n.844G>A | ||
| NM_004984.4:c.611G>A MANE Select | NP_004975.2:p.Arg204Gln | |
| NM_001354705.2:c.344G>A | NP_001341634.1:p.Arg115Gln |