Linked Data
ClinVar Variation Id:
2345251
ClinVar RCV Id:
RCV004188556
dbSNP Id:
rs771868603
ExAC:
3:184045032 A / G
gnomAD v2:
3-184045032-A-G
gnomAD v4:
3-184327244-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184327244A>G , CM000665.2:g.184327244A>G | GRCh38 |
| NC_000003.11:g.184045032A>G , CM000665.1:g.184045032A>G | GRCh37 |
| NC_000003.10:g.185527726A>G | NCBI36 |
| NG_016850.1:g.17677A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.3457A>G (EIF4G1) MANE Select | ENSP00000316879.5:p.Lys1153Glu | |
| ENST00000435046.7:c.3391A>G (EIF4G1) | ENSP00000404754.3:p.Lys1131Glu | |
| ENST00000676453.1:c.2804A>G (EIF4G1) | ENSP00000501695.1:n.2804A>G | |
| ENST00000319274.10:c.2863A>G (EIF4G1) | ENSP00000323737.7:p.Lys955Glu | |
| ENST00000342981.8:c.3460A>G (EIF4G1) | ENSP00000343450.4:p.Lys1154Glu | |
| ENST00000346169.6:c.3457A>G (EIF4G1) | ENSP00000316879.4:p.Lys1153Glu | |
| ENST00000350481.9:c.2965A>G (EIF4G1) | ENSP00000317600.8:p.Lys989Glu | |
| ENST00000352767.7:c.3478A>G (EIF4G1) | ENSP00000338020.4:p.Lys1160Glu | |
| ENST00000382330.7:c.3478A>G (EIF4G1) | ENSP00000371767.3:p.Lys1160Glu | |
| ENST00000392537.6:c.3196A>G (EIF4G1) | ENSP00000376320.2:p.Lys1066Glu | |
| ENST00000411531.5:c.3340A>G (EIF4G1) | ENSP00000395974.1:p.Lys1114Glu | |
| ENST00000414031.5:c.3337A>G (EIF4G1) | ENSP00000391935.1:p.Lys1113Glu | |
| ENST00000424196.5:c.3478A>G (EIF4G1) | ENSP00000416255.1:p.Lys1160Glu | |
| ENST00000427845.5:c.3199A>G (EIF4G1) | ENSP00000407682.1:p.Lys1067Glu | |
| ENST00000434061.6:c.2872A>G (EIF4G1) | ENSP00000411826.2:p.Lys958Glu | |
| ENST00000435046.6:c.2869A>G (EIF4G1) | ENSP00000404754.2:p.Lys957Glu | |
| ENST00000441154.5:c.2968A>G (EIF4G1) | ENSP00000399858.1:p.Lys990Glu | |
| ENST00000442406.5:c.*2896A>G (EIF4G1) | ENSP00000400351.1:n.*2896A>G | |
| ENST00000444495.1:c.2106+182537A>G (EIF2B5) | ENSP00000409142.1:n.2106+182537A>G | |
| ENST00000448284.1:c.618A>G (EIF4G1) | ||
| NM_001194946.1:c.3478A>G (EIF4G1) | NP_001181875.1:p.Lys1160Glu | |
| NM_001194947.1:c.3478A>G (EIF4G1) | NP_001181876.1:p.Lys1160Glu | |
| NM_001291157.1:c.3337A>G (EIF4G1) | NP_001278086.1:p.Lys1113Glu | |
| NM_004953.4:c.2872A>G (EIF4G1) | NP_004944.3:p.Lys958Glu | |
| NM_182917.4:c.3460A>G (EIF4G1) | NP_886553.3:p.Lys1154Glu | |
| NM_198241.2:c.3457A>G (EIF4G1) | NP_937884.1:p.Lys1153Glu | |
| NM_198242.2:c.2965A>G (EIF4G1) | NP_937885.1:p.Lys989Glu | |
| NM_198244.2:c.3196A>G (EIF4G1) | NP_937887.1:p.Lys1066Glu | |
| NM_001194946.2:c.3478A>G (EIF4G1) | NP_001181875.2:p.Lys1160Glu | |
| NM_001291157.2:c.3337A>G (EIF4G1) | NP_001278086.2:p.Lys1113Glu | |
| NM_004953.5:c.2872A>G (EIF4G1) | NP_004944.3:p.Lys958Glu | |
| NM_198241.3:c.3457A>G (EIF4G1) MANE Select | NP_937884.2:p.Lys1153Glu | |
| NM_198242.3:c.2965A>G (EIF4G1) | NP_937885.1:p.Lys989Glu | |
| NM_198244.3:c.3196A>G (EIF4G1) | NP_937887.2:p.Lys1066Glu | |
| NM_001194947.2:c.3478A>G (EIF4G1) | NP_001181876.2:p.Lys1160Glu |