Revel Score:
ENST00000375151 (MANE Select)
0.392
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54443418A>G , CM000685.2:g.54443418A>G | GRCh38 |
| NC_000023.10:g.54469851A>G , CM000685.1:g.54469851A>G | GRCh37 |
| NC_000023.9:g.54486576A>G | NCBI36 |
| NG_051993.1:g.8044A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375151.5:c.191A>G MANE Select | ENSP00000364293.4:p.Glu64Gly | |
| ENST00000375151.4:c.191A>G | ENSP00000364293.4:p.Glu64Gly | |
| NM_058163.1:c.191A>G | NP_477511.1:p.Glu64Gly | |
| NM_001346789.1:c.191A>G | NP_001333718.1:p.Glu64Gly | |
| NM_001346790.1:c.-86A>G | NP_001333719.1:n.-86A>G | |
| NM_001346791.1:c.-95A>G | NP_001333720.1:n.-95A>G | |
| NM_001346792.1:c.-95A>G | NP_001333721.1:n.-95A>G | |
| NM_058163.2:c.191A>G | NP_477511.1:p.Glu64Gly | |
| NM_058163.3:c.191A>G MANE Select | NP_477511.1:p.Glu64Gly | |
| NM_001346789.2:c.191A>G | NP_001333718.1:p.Glu64Gly | |
| NM_001346790.2:c.-86A>G | NP_001333719.1:n.-86A>G | |
| NM_001346791.2:c.-95A>G | NP_001333720.1:n.-95A>G | |
| NM_001346792.2:c.-95A>G | NP_001333721.1:n.-95A>G |