Linked Data
ClinVar Variation Id:
30072
ClinVar RCV Id:
RCV000022975
dbSNP Id:
rs112176450
ExAC:
3:184045189 G / A
gnomAD v2:
3-184045189-G-A
gnomAD v3:
3-184327401-G-A
gnomAD v4:
3-184327401-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184327401G>A , CM000665.2:g.184327401G>A | GRCh38 |
| NC_000003.11:g.184045189G>A , CM000665.1:g.184045189G>A | GRCh37 |
| NC_000003.10:g.185527883G>A | NCBI36 |
| NG_016850.1:g.17834G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346169.7:c.3614G>A (EIF4G1) MANE Select | ENSP00000316879.5:p.Arg1205His | |
| ENST00000435046.7:c.3548G>A (EIF4G1) | ENSP00000404754.3:p.Arg1183His | |
| ENST00000676453.1:c.2961G>A (EIF4G1) | ENSP00000501695.1:n.2961G>A | |
| ENST00000319274.10:c.3017G>A (EIF4G1) | ENSP00000323737.7:p.Arg1006His | |
| ENST00000342981.8:c.3617G>A (EIF4G1) | ENSP00000343450.4:p.Arg1206His | |
| ENST00000346169.6:c.3614G>A (EIF4G1) | ENSP00000316879.4:p.Arg1205His | |
| ENST00000350481.9:c.3122G>A (EIF4G1) | ENSP00000317600.8:p.Arg1041His | |
| ENST00000352767.7:c.3635G>A (EIF4G1) | ENSP00000338020.4:p.Arg1212His | |
| ENST00000382330.7:c.3635G>A (EIF4G1) | ENSP00000371767.3:p.Arg1212His | |
| ENST00000392537.6:c.3353G>A (EIF4G1) | ENSP00000376320.2:p.Arg1118His | |
| ENST00000411531.5:c.3497G>A (EIF4G1) | ENSP00000395974.1:p.Arg1166His | |
| ENST00000414031.5:c.3494G>A (EIF4G1) | ENSP00000391935.1:p.Arg1165His | |
| ENST00000424196.5:c.3635G>A (EIF4G1) | ENSP00000416255.1:p.Arg1212His | |
| ENST00000427845.5:c.3356G>A (EIF4G1) | ENSP00000407682.1:p.Arg1119His | |
| ENST00000434061.6:c.3029G>A (EIF4G1) | ENSP00000411826.2:p.Arg1010His | |
| ENST00000435046.6:c.3026G>A (EIF4G1) | ENSP00000404754.2:p.Arg1009His | |
| ENST00000441154.5:c.3125G>A (EIF4G1) | ENSP00000399858.1:p.Arg1042His | |
| ENST00000442406.5:c.*3053G>A (EIF4G1) | ENSP00000400351.1:n.*3053G>A | |
| ENST00000444495.1:c.2106+182694G>A (EIF2B5) | ENSP00000409142.1:n.2106+182694G>A | |
| ENST00000482303.1:n.116G>A (EIF4G1) | ||
| NM_001194946.1:c.3635G>A (EIF4G1) | NP_001181875.1:p.Arg1212His | |
| NM_001194947.1:c.3635G>A (EIF4G1) | NP_001181876.1:p.Arg1212His | |
| NM_001291157.1:c.3494G>A (EIF4G1) | NP_001278086.1:p.Arg1165His | |
| NM_004953.4:c.3029G>A (EIF4G1) | NP_004944.3:p.Arg1010His | |
| NM_182917.4:c.3617G>A (EIF4G1) | NP_886553.3:p.Arg1206His | |
| NM_198241.2:c.3614G>A (EIF4G1) | NP_937884.1:p.Arg1205His | |
| NM_198242.2:c.3122G>A (EIF4G1) | NP_937885.1:p.Arg1041His | |
| NM_198244.2:c.3353G>A (EIF4G1) | NP_937887.1:p.Arg1118His | |
| NM_001194946.2:c.3635G>A (EIF4G1) | NP_001181875.2:p.Arg1212His | |
| NM_001291157.2:c.3494G>A (EIF4G1) | NP_001278086.2:p.Arg1165His | |
| NM_004953.5:c.3029G>A (EIF4G1) | NP_004944.3:p.Arg1010His | |
| NM_198241.3:c.3614G>A (EIF4G1) MANE Select | NP_937884.2:p.Arg1205His | |
| NM_198242.3:c.3122G>A (EIF4G1) | NP_937885.1:p.Arg1041His | |
| NM_198244.3:c.3353G>A (EIF4G1) | NP_937887.2:p.Arg1118His | |
| NM_001194947.2:c.3635G>A (EIF4G1) | NP_001181876.2:p.Arg1212His |