Revel Score:
ENST00000405031
0.122
ENST00000326873 (MANE Select)
0.167
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003099 (NFE)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00003117 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226571G>A , CM000681.2:g.1226571G>A | GRCh38 |
| NC_000019.9:g.1226570G>A , CM000681.1:g.1226570G>A | GRCh37 |
| NC_000019.8:g.1177570G>A | NCBI36 |
| NG_007460.2:g.42165G>A , LRG_319:g.42165G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2827G>A | ENSP00000490268.2:n.*2827G>A | |
| ENST00000585748.3:c.854G>A | ENSP00000477641.2:p.Arg285Gln | |
| ENST00000585851.2:c.1052G>A | ENSP00000467912.2:p.Arg351Gln | |
| ENST00000326873.12:c.1226G>A MANE Select | ENSP00000324856.6:p.Arg409Gln | |
| ENST00000326873.11:c.1226G>A | ENSP00000324856.6:p.Arg409Gln | |
| ENST00000585465.2:n.2959G>A | ||
| ENST00000586243.5:c.1225G>A | ENSP00000467240.2:p.Gly409Arg | |
| ENST00000589152.5:n.1924G>A | ||
| NM_000455.4:c.1226G>A , LRG_319t1:c.1226G>A | NP_000446.1:p.Arg409Gln | |
| XM_005259617.1:c.1221G>A | XP_005259674.1:p.Pro407= | |
| XM_011528209.1:c.999G>A | XP_011526511.1:p.Pro333= | |
| XM_005259617.3:c.1221G>A | XP_005259674.1:p.Pro407= | |
| XM_011528209.2:c.999G>A | XP_011526511.1:p.Pro333= | |
| XR_001753738.2:n.2032G>A | ||
| XR_001753740.2:n.2002G>A | ||
| NM_000455.5:c.1226G>A MANE Select | NP_000446.1:p.Arg409Gln |