Linked Data
dbSNP Id:
rs773615250
ExAC:
3:184045427 G / C
gnomAD v2:
3-184045427-G-C
gnomAD v3:
3-184327639-G-C
gnomAD v4:
3-184327639-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184327639G>C , CM000665.2:g.184327639G>C | GRCh38 |
| NC_000003.11:g.184045427G>C , CM000665.1:g.184045427G>C | GRCh37 |
| NC_000003.10:g.185528121G>C | NCBI36 |
| NG_016850.1:g.18072G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.3715G>C (EIF4G1) MANE Select | ENSP00000316879.5:p.Glu1239Gln | |
| ENST00000435046.7:c.3649G>C (EIF4G1) | ENSP00000404754.3:p.Glu1217Gln | |
| ENST00000676453.1:c.3062G>C (EIF4G1) | ENSP00000501695.1:n.3062G>C | |
| ENST00000319274.10:c.3118G>C (EIF4G1) | ENSP00000323737.7:p.Glu1040Gln | |
| ENST00000342981.8:c.3718G>C (EIF4G1) | ENSP00000343450.4:p.Glu1240Gln | |
| ENST00000346169.6:c.3715G>C (EIF4G1) | ENSP00000316879.4:p.Glu1239Gln | |
| ENST00000350481.9:c.3223G>C (EIF4G1) | ENSP00000317600.8:p.Glu1075Gln | |
| ENST00000352767.7:c.3736G>C (EIF4G1) | ENSP00000338020.4:p.Glu1246Gln | |
| ENST00000382330.7:c.3736G>C (EIF4G1) | ENSP00000371767.3:p.Glu1246Gln | |
| ENST00000392537.6:c.3454G>C (EIF4G1) | ENSP00000376320.2:p.Glu1152Gln | |
| ENST00000411531.5:c.3598G>C (EIF4G1) | ENSP00000395974.1:p.Glu1200Gln | |
| ENST00000414031.5:c.3595G>C (EIF4G1) | ENSP00000391935.1:p.Glu1199Gln | |
| ENST00000424196.5:c.3736G>C (EIF4G1) | ENSP00000416255.1:p.Glu1246Gln | |
| ENST00000427845.5:c.3457G>C (EIF4G1) | ENSP00000407682.1:p.Glu1153Gln | |
| ENST00000434061.6:c.3130G>C (EIF4G1) | ENSP00000411826.2:p.Glu1044Gln | |
| ENST00000435046.6:c.3127G>C (EIF4G1) | ENSP00000404754.2:p.Glu1043Gln | |
| ENST00000441154.5:c.3226G>C (EIF4G1) | ENSP00000399858.1:p.Glu1076Gln | |
| ENST00000442406.5:c.*3154G>C (EIF4G1) | ENSP00000400351.1:n.*3154G>C | |
| ENST00000444495.1:c.2106+182932G>C (EIF2B5) | ENSP00000409142.1:n.2106+182932G>C | |
| ENST00000482303.1:n.217G>C (EIF4G1) | ||
| NM_001194946.1:c.3736G>C (EIF4G1) | NP_001181875.1:p.Glu1246Gln | |
| NM_001194947.1:c.3736G>C (EIF4G1) | NP_001181876.1:p.Glu1246Gln | |
| NM_001291157.1:c.3595G>C (EIF4G1) | NP_001278086.1:p.Glu1199Gln | |
| NM_004953.4:c.3130G>C (EIF4G1) | NP_004944.3:p.Glu1044Gln | |
| NM_182917.4:c.3718G>C (EIF4G1) | NP_886553.3:p.Glu1240Gln | |
| NM_198241.2:c.3715G>C (EIF4G1) | NP_937884.1:p.Glu1239Gln | |
| NM_198242.2:c.3223G>C (EIF4G1) | NP_937885.1:p.Glu1075Gln | |
| NM_198244.2:c.3454G>C (EIF4G1) | NP_937887.1:p.Glu1152Gln | |
| NM_001194946.2:c.3736G>C (EIF4G1) | NP_001181875.2:p.Glu1246Gln | |
| NM_001291157.2:c.3595G>C (EIF4G1) | NP_001278086.2:p.Glu1199Gln | |
| NM_004953.5:c.3130G>C (EIF4G1) | NP_004944.3:p.Glu1044Gln | |
| NM_198241.3:c.3715G>C (EIF4G1) MANE Select | NP_937884.2:p.Glu1239Gln | |
| NM_198242.3:c.3223G>C (EIF4G1) | NP_937885.1:p.Glu1075Gln | |
| NM_198244.3:c.3454G>C (EIF4G1) | NP_937887.2:p.Glu1152Gln | |
| NM_001194947.2:c.3736G>C (EIF4G1) | NP_001181876.2:p.Glu1246Gln |