Revel Score:
ENST00000341735 (MANE Select)
0.302
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01516154 (EAS)
Genomes Max Group AF
0.00837371 (EAS)
Exomes Max Group AF
0.01590794 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776663C>A , CM000677.2:g.89776663C>A | GRCh38 |
| NC_000015.9:g.90319894C>A , CM000677.1:g.90319894C>A | GRCh37 |
| NC_000015.8:g.88120898C>A | NCBI36 |
| NG_008608.1:g.5306C>A | |
| NG_008608.2:g.21073C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.306C>A MANE Select | ENSP00000342392.3:p.His102Gln | |
| ENST00000341735.3:c.306C>A | ENSP00000342392.3:p.His102Gln | |
| ENST00000558723.1:n.39-1402C>A | ||
| ENST00000560219.2:c.31-1402C>A | ENSP00000452998.1:n.31-1402C>A | |
| NM_001039958.1:c.306C>A | NP_001035047.1:p.His102Gln | |
| NM_001039958.2:c.306C>A MANE Select | NP_001035047.1:p.His102Gln |