Revel Score:
ENST00000261304 (MANE Select)
0.437
ENST00000544807
0.437
ENST00000393569
0.437
ENST00000539620
0.437
ENST00000393568
0.437
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00171361 (EAS)
Genomes Max Group AF
0.00258093 (EAS)
Exomes Max Group AF
0.00147676 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87945650C>T , CM000676.2:g.87945650C>T | GRCh38 |
| NC_000014.8:g.88411994C>T , CM000676.1:g.88411994C>T | GRCh37 |
| NC_000014.7:g.87481747C>T | NCBI36 |
| NG_011853.2:g.52914G>A | |
| NG_011853.3:g.52914G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1573G>A MANE Select | ENSP00000261304.2:p.Glu525Lys | |
| ENST00000261304.6:c.1573G>A | ENSP00000261304.2:p.Glu525Lys | |
| ENST00000393568.8:c.1504G>A | ENSP00000377198.4:p.Glu502Lys | |
| ENST00000393569.6:c.1495G>A | ENSP00000377199.2:p.Glu499Lys | |
| ENST00000544807.6:c.1405G>A | ENSP00000437513.2:p.Glu469Lys | |
| ENST00000555000.5:c.940G>A | ENSP00000450472.1:p.Glu314Lys | |
| ENST00000555179.1:c.206+2078G>A | ||
| ENST00000557316.5:c.*971G>A | ENSP00000452314.1:n.*971G>A | |
| NM_000153.3:c.1573G>A | NP_000144.2:p.Glu525Lys | |
| NM_001201401.1:c.1504G>A | NP_001188330.1:p.Glu502Lys | |
| NM_001201402.1:c.1495G>A | NP_001188331.1:p.Glu499Lys | |
| XM_011536618.1:c.1405G>A | XP_011534920.1:p.Glu469Lys | |
| XM_011536618.2:c.1405G>A | XP_011534920.1:p.Glu469Lys | |
| NM_000153.4:c.1573G>A MANE Select | NP_000144.2:p.Glu525Lys | |
| NM_001201401.2:c.1504G>A | NP_001188330.1:p.Glu502Lys | |
| NM_001201402.2:c.1495G>A | NP_001188331.1:p.Glu499Lys |