Revel Score:
ENST00000367376
0.055
ENST00000367366
0.055
ENST00000352140
0.055
ENST00000535566
0.055
ENST00000530727
0.055
ENST00000442510 (MANE Select)
0.055
ENST00000367367
0.055
ENST00000348564
0.055
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01548559 (NFE)
Genomes Max Group AF
0.01506821 (NFE)
Exomes Max Group AF
0.01546763 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.198722466T>A , CM000663.2:g.198722466T>A | GRCh38 |
| NC_000001.10:g.198691595T>A , CM000663.1:g.198691595T>A | GRCh37 |
| NC_000001.9:g.196958218T>A | NCBI36 |
| NG_007730.1:g.88371T>A | |
| NG_007730.2:g.88372T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491302.2:n.763T>A | ||
| ENST00000697630.1:n.5540T>A | ||
| ENST00000697631.1:c.1425T>A | ENSP00000513363.1:p.His475Gln | |
| ENST00000697632.1:c.672T>A | ENSP00000513364.1:p.His224Gln | |
| ENST00000697633.1:c.185T>A | ||
| ENST00000348564.11:c.1227T>A | ENSP00000306782.7:p.His409Gln | |
| ENST00000442510.8:c.1710T>A MANE Select | ENSP00000411355.3:p.His570Gln | |
| ENST00000348564.10:c.1227T>A | ENSP00000306782.7:p.His409Gln | |
| ENST00000367367.8:c.1512T>A | ENSP00000356337.5:p.His504Gln | |
| ENST00000442510.6:c.1710T>A | ENSP00000411355.3:p.His570Gln | |
| ENST00000529828.5:c.1566T>A | ENSP00000469141.1:p.His522Gln | |
| ENST00000530727.5:c.1368T>A | ENSP00000433536.2:p.His456Gln | |
| NM_002838.4:c.1710T>A | NP_002829.3:p.His570Gln | |
| NM_080921.3:c.1227T>A | NP_563578.2:p.His409Gln | |
| XM_006711472.2:c.1566T>A | XP_006711535.1:p.His522Gln | |
| XM_006711473.2:c.1512T>A | XP_006711536.1:p.His504Gln | |
| XM_006711474.2:c.1368T>A | XP_006711537.1:p.His456Gln | |
| XM_006711472.4:c.1566T>A | XP_006711535.1:p.His522Gln | |
| XM_006711473.3:c.1512T>A | XP_006711536.1:p.His504Gln | |
| XM_006711474.3:c.1368T>A | XP_006711537.1:p.His456Gln | |
| NM_002838.5:c.1710T>A MANE Select | NP_002829.3:p.His570Gln | |
| NM_080921.4:c.1227T>A | NP_563578.2:p.His409Gln |