Revel Score:
ENST00000503569
0.981
ENST00000226760 (MANE Select)
0.981
ENST00000540337
0.981
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0046733 (NFE)
Genomes Max Group AF
0.00404107 (NFE)
Exomes Max Group AF
0.00468951 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302122A>T , CM000666.2:g.6302122A>T | GRCh38 |
| NC_000004.11:g.6303849A>T , CM000666.1:g.6303849A>T | GRCh37 |
| NC_000004.10:g.6354750A>T | NCBI36 |
| NG_011700.1:g.37273A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2363A>T | ENSP00000507852.1:p.Glu788Val | |
| ENST00000683395.1:c.2304A>T | ||
| ENST00000684087.1:c.2327A>T | ENSP00000506978.1:p.Glu776Val | |
| ENST00000506362.2:c.2078A>T | ENSP00000424103.2:p.Glu693Val | |
| ENST00000673642.1:c.1986A>T | ENSP00000501242.1:n.1986A>T | |
| ENST00000673991.1:c.2363A>T | ENSP00000501033.1:p.Glu788Val | |
| ENST00000226760.5:c.2327A>T MANE Select | ENSP00000226760.1:p.Glu776Val | |
| ENST00000503569.5:c.2327A>T | ENSP00000423337.1:p.Glu776Val | |
| ENST00000507765.1:n.2512A>T | ||
| NM_001145853.1:c.2327A>T | NP_001139325.1:p.Glu776Val | |
| NM_006005.3:c.2327A>T MANE Select | NP_005996.2:p.Glu776Val | |
| XM_017008586.1:c.2336A>T | XP_016864075.1:p.Glu779Val |