Revel Score:
ENST00000205402 (MANE Select)
0.643
ENST00000417551
0.643
ENST00000537148
0.643
ENST00000440410
0.643
ENST00000437604
0.643
ENST00000539590
0.643
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000803 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107917349G>A , CM000669.2:g.107917349G>A | GRCh38 |
| NC_000007.13:g.107557794G>A , CM000669.1:g.107557794G>A | GRCh37 |
| NC_000007.12:g.107345030G>A | NCBI36 |
| NG_008045.1:g.31209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1123G>A MANE Select | ENSP00000205402.3:p.Glu375Lys | |
| ENST00000205402.9:c.1123G>A | ENSP00000205402.3:p.Glu375Lys | |
| ENST00000415325.5:c.*797G>A | ENSP00000402593.1:n.*797G>A | |
| ENST00000417551.5:c.1123G>A | ENSP00000390667.1:p.Glu375Lys | |
| ENST00000437604.6:c.979G>A | ENSP00000387542.2:p.Glu327Lys | |
| ENST00000440410.5:c.1054G>A | ENSP00000417016.1:p.Glu352Lys | |
| NM_000108.4:c.1123G>A | NP_000099.2:p.Glu375Lys | |
| NM_001289750.1:c.826G>A | NP_001276679.1:p.Glu276Lys | |
| NM_001289751.1:c.1054G>A | NP_001276680.1:p.Glu352Lys | |
| NM_001289752.1:c.979G>A | NP_001276681.1:p.Glu327Lys | |
| NM_000108.5:c.1123G>A MANE Select | NP_000099.2:p.Glu375Lys |