Revel Score:
ENST00000438926
0.895
ENST00000262502
0.895
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017087 (EAS)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00019288 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56904402G>A , CM000678.2:g.56904402G>A | GRCh38 |
| NC_000016.9:g.56938314G>A , CM000678.1:g.56938314G>A | GRCh37 |
| NC_000016.8:g.55495815G>A | NCBI36 |
| NG_009386.1:g.44196G>A | |
| NG_009386.2:g.44196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2864G>A MANE Select | ENSP00000456149.2:p.Arg955Gln | |
| ENST00000262502.5:c.2861G>A | ENSP00000262502.5:p.Arg954Gln | |
| ENST00000438926.6:c.2891G>A | ENSP00000402152.2:p.Arg964Gln | |
| ENST00000563236.5:c.2864G>A | ENSP00000456149.1:p.Arg955Gln | |
| ENST00000566786.5:c.2888G>A | ENSP00000457552.1:p.Arg963Gln | |
| ENST00000569002.1:n.295G>A | ||
| NM_000339.2:c.2891G>A | NP_000330.2:p.Arg964Gln | |
| NM_001126107.1:c.2888G>A | NP_001119579.1:p.Arg963Gln | |
| NM_001126108.1:c.2864G>A | NP_001119580.1:p.Arg955Gln | |
| XM_005256119.1:c.2861G>A | XP_005256176.1:p.Arg954Gln | |
| XM_005256119.2:c.2861G>A | XP_005256176.1:p.Arg954Gln | |
| NM_000339.3:c.2891G>A | NP_000330.3:p.Arg964Gln | |
| NM_001126107.2:c.2888G>A | NP_001119579.2:p.Arg963Gln | |
| NM_001126108.2:c.2864G>A MANE Select | NP_001119580.2:p.Arg955Gln |