Revel Score:
ENST00000354484
0.503
ENST00000393061
0.503
ENST00000393060
0.503
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001905 (AFR)
Genomes Max Group AF
0.0000083 (AFR)
Exomes Max Group AF
0.00001048 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133539801G>A , CM000671.2:g.133539801G>A | GRCh38 |
| NC_000009.11:g.136404923G>A , CM000671.1:g.136404923G>A | GRCh37 |
| NC_000009.10:g.135394744G>A | NCBI36 |
| NG_009931.1:g.12638G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651351.2:c.340G>A MANE Select | ENSP00000498961.2:p.Glu114Lys | |
| ENST00000354484.8:c.340G>A | ENSP00000346478.4:p.Glu114Lys | |
| ENST00000393060.1:c.340G>A | ENSP00000376780.1:p.Glu114Lys | |
| ENST00000393061.7:c.667G>A | ENSP00000376781.3:p.Glu223Lys | |
| NM_001145320.1:c.340G>A | NP_001138792.1:p.Glu114Lys | |
| NM_014694.3:c.340G>A | NP_055509.2:p.Glu114Lys | |
| XM_005272237.2:c.667G>A | XP_005272294.1:p.Glu223Lys | |
| XM_005272238.2:c.375G>A | XP_005272295.1:p.Ala125= | |
| XM_005272239.2:c.340G>A | XP_005272296.1:p.Glu114Lys | |
| XM_006717337.2:c.340G>A | XP_006717400.1:p.Glu114Lys | |
| XM_011519241.1:c.228G>A | XP_011517543.1:p.Ala76= | |
| XM_011519242.1:c.406G>A | XP_011517544.1:p.Glu136Lys | |
| XM_005272237.3:c.667G>A | XP_005272294.1:p.Glu223Lys | |
| XM_005272238.3:c.375G>A | XP_005272295.1:p.Ala125= | |
| XM_011519241.2:c.555G>A | XP_011517543.2:p.Ala185= | |
| XM_011519242.3:c.406G>A | XP_011517544.1:p.Glu136Lys | |
| NM_014694.4:c.340G>A MANE Select | NP_055509.2:p.Glu114Lys | |
| NM_001145320.2:c.340G>A | NP_001138792.1:p.Glu114Lys |