Linked Data
dbSNP Id:
rs778278428
ExAC:
3:184045142 A / G
gnomAD v2:
3-184045142-A-G
gnomAD v3:
3-184327354-A-G
gnomAD v4:
3-184327354-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184327354A>G , CM000665.2:g.184327354A>G | GRCh38 |
| NC_000003.11:g.184045142A>G , CM000665.1:g.184045142A>G | GRCh37 |
| NC_000003.10:g.185527836A>G | NCBI36 |
| NG_016850.1:g.17787A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.3567A>G (EIF4G1) MANE Select | ENSP00000316879.5:p.Glu1189= | |
| ENST00000435046.7:c.3501A>G (EIF4G1) | ENSP00000404754.3:p.Glu1167= | |
| ENST00000676453.1:c.2914A>G (EIF4G1) | ENSP00000501695.1:n.2914A>G | |
| ENST00000319274.10:c.2970A>G (EIF4G1) | ENSP00000323737.7:p.Glu990= | |
| ENST00000342981.8:c.3570A>G (EIF4G1) | ENSP00000343450.4:p.Glu1190= | |
| ENST00000346169.6:c.3567A>G (EIF4G1) | ENSP00000316879.4:p.Glu1189= | |
| ENST00000350481.9:c.3075A>G (EIF4G1) | ENSP00000317600.8:p.Glu1025= | |
| ENST00000352767.7:c.3588A>G (EIF4G1) | ENSP00000338020.4:p.Glu1196= | |
| ENST00000382330.7:c.3588A>G (EIF4G1) | ENSP00000371767.3:p.Glu1196= | |
| ENST00000392537.6:c.3306A>G (EIF4G1) | ENSP00000376320.2:p.Glu1102= | |
| ENST00000411531.5:c.3450A>G (EIF4G1) | ENSP00000395974.1:p.Glu1150= | |
| ENST00000414031.5:c.3447A>G (EIF4G1) | ENSP00000391935.1:p.Glu1149= | |
| ENST00000424196.5:c.3588A>G (EIF4G1) | ENSP00000416255.1:p.Glu1196= | |
| ENST00000427845.5:c.3309A>G (EIF4G1) | ENSP00000407682.1:p.Glu1103= | |
| ENST00000434061.6:c.2982A>G (EIF4G1) | ENSP00000411826.2:p.Glu994= | |
| ENST00000435046.6:c.2979A>G (EIF4G1) | ENSP00000404754.2:p.Glu993= | |
| ENST00000441154.5:c.3078A>G (EIF4G1) | ENSP00000399858.1:p.Glu1026= | |
| ENST00000442406.5:c.*3006A>G (EIF4G1) | ENSP00000400351.1:n.*3006A>G | |
| ENST00000444495.1:c.2106+182647A>G (EIF2B5) | ENSP00000409142.1:n.2106+182647A>G | |
| ENST00000482303.1:n.69A>G (EIF4G1) | ||
| NM_001194946.1:c.3588A>G (EIF4G1) | NP_001181875.1:p.Glu1196= | |
| NM_001194947.1:c.3588A>G (EIF4G1) | NP_001181876.1:p.Glu1196= | |
| NM_001291157.1:c.3447A>G (EIF4G1) | NP_001278086.1:p.Glu1149= | |
| NM_004953.4:c.2982A>G (EIF4G1) | NP_004944.3:p.Glu994= | |
| NM_182917.4:c.3570A>G (EIF4G1) | NP_886553.3:p.Glu1190= | |
| NM_198241.2:c.3567A>G (EIF4G1) | NP_937884.1:p.Glu1189= | |
| NM_198242.2:c.3075A>G (EIF4G1) | NP_937885.1:p.Glu1025= | |
| NM_198244.2:c.3306A>G (EIF4G1) | NP_937887.1:p.Glu1102= | |
| NM_001194946.2:c.3588A>G (EIF4G1) | NP_001181875.2:p.Glu1196= | |
| NM_001291157.2:c.3447A>G (EIF4G1) | NP_001278086.2:p.Glu1149= | |
| NM_004953.5:c.2982A>G (EIF4G1) | NP_004944.3:p.Glu994= | |
| NM_198241.3:c.3567A>G (EIF4G1) MANE Select | NP_937884.2:p.Glu1189= | |
| NM_198242.3:c.3075A>G (EIF4G1) | NP_937885.1:p.Glu1025= | |
| NM_198244.3:c.3306A>G (EIF4G1) | NP_937887.2:p.Glu1102= | |
| NM_001194947.2:c.3588A>G (EIF4G1) | NP_001181876.2:p.Glu1196= |