Revel Score:
ENST00000553947
0.653
ENST00000393078 (MANE Select)
0.653
ENST00000393080
0.653
ENST00000555820
0.653
ENST00000467132
0.653
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94614674T>A , CM000676.2:g.94614674T>A | GRCh38 |
| NC_000014.8:g.95081011T>A , CM000676.1:g.95081011T>A | GRCh37 |
| NC_000014.7:g.94150764T>A | NCBI36 |
| NG_012879.1:g.7298T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393078.5:c.233T>A MANE Select | ENSP00000376793.3:p.Leu78Gln | |
| ENST00000393078.4:c.233T>A | ENSP00000376793.3:p.Leu78Gln | |
| ENST00000393080.8:c.233T>A | ENSP00000376795.4:p.Leu78Gln | |
| ENST00000467132.5:c.233T>A | ENSP00000450540.1:p.Leu78Gln | |
| ENST00000553947.1:c.1196T>A | ||
| ENST00000555820.1:c.233T>A | ENSP00000452246.3:p.Leu78Gln | |
| ENST00000556388.1:n.57+2227T>A | ||
| ENST00000556968.2:c.233T>A | ENSP00000452476.1:p.Leu78Gln | |
| NM_001085.4:c.233T>A | NP_001076.2:p.Leu78Gln | |
| NM_001085.5:c.233T>A MANE Select | NP_001076.2:p.Leu78Gln | |
| NM_001384672.1:c.233T>A | NP_001371601.1:p.Leu78Gln | |
| NM_001384673.1:c.233T>A | NP_001371602.1:p.Leu78Gln | |
| NM_001384674.1:c.233T>A | NP_001371603.1:p.Leu78Gln |