Revel Score:
ENST00000225614
0.759
ENST00000437911
0.759
ENST00000375188
0.759
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02894082 (EAS)
Genomes Max Group AF
0.01201231 (EAS)
Exomes Max Group AF
0.03084761 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75763032G>A , CM000679.2:g.75763032G>A | GRCh38 |
| NC_000017.10:g.73759113G>A , CM000679.1:g.73759113G>A | GRCh37 |
| NC_000017.9:g.71270708G>A | NCBI36 |
| NG_008079.1:g.7168C>T | |
| NG_008079.2:g.7168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587707.2:c.625C>T | ENSP00000468341.2:n.625C>T | |
| ENST00000592997.6:c.593C>T | ENSP00000464765.2:p.Ala198Val | |
| ENST00000588479.6:c.593C>T MANE Select | ENSP00000465930.1:p.Ala198Val | |
| ENST00000225614.6:c.593C>T | ENSP00000225614.1:p.Ala198Val | |
| ENST00000586244.1:c.*487C>T | ENSP00000468288.1:n.*487C>T | |
| ENST00000587707.1:c.379C>T | ENSP00000468341.1:n.379C>T | |
| ENST00000588479.5:c.593C>T | ENSP00000465930.1:p.Ala198Val | |
| ENST00000592494.1:n.784C>T | ||
| ENST00000592997.5:c.59C>T | ENSP00000464765.1:p.Ala20Val | |
| NM_000154.1:c.593C>T | NP_000145.1:p.Ala198Val | |
| NM_000154.2:c.593C>T MANE Select | NP_000145.1:p.Ala198Val | |
| NM_001381985.1:c.593C>T | NP_001368914.1:p.Ala198Val |