Revel Score:
ENST00000263253 (MANE Select)
0.953
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41176250T>G , CM000684.2:g.41176250T>G | GRCh38 |
| NC_000022.10:g.41572254T>G , CM000684.1:g.41572254T>G | GRCh37 |
| NC_000022.9:g.39902200T>G | NCBI36 |
| NG_009817.1:g.88641T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.*2703T>G | ENSP00000515365.1:n.*2703T>G | |
| ENST00000263253.9:c.4783T>G MANE Select | ENSP00000263253.7:p.Phe1595Val | |
| ENST00000674155.1:c.4705T>G | ENSP00000501078.1:p.Phe1569Val | |
| ENST00000263253.8:c.4783T>G | ENSP00000263253.7:p.Phe1595Val | |
| ENST00000635083.1:n.192T>G | ||
| NM_001429.3:c.4783T>G | NP_001420.2:p.Phe1595Val | |
| XM_006724165.2:c.4705T>G | XP_006724228.1:p.Phe1569Val | |
| NM_001362843.1:c.4705T>G | NP_001349772.1:p.Phe1569Val | |
| NM_001429.4:c.4783T>G MANE Select | NP_001420.2:p.Phe1595Val | |
| NM_001362843.2:c.4705T>G | NP_001349772.1:p.Phe1569Val |