Linked Data
dbSNP Id:
rs781199378
gnomAD v2:
3-184045395-C-A
gnomAD v3:
3-184327607-C-A
gnomAD v4:
3-184327607-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184327607C>A , CM000665.2:g.184327607C>A | GRCh38 |
| NC_000003.11:g.184045395C>A , CM000665.1:g.184045395C>A | GRCh37 |
| NC_000003.10:g.185528089C>A | NCBI36 |
| NG_016850.1:g.18040C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.3683C>A (EIF4G1) MANE Select | ENSP00000316879.5:p.Pro1228His | |
| ENST00000435046.7:c.3617C>A (EIF4G1) | ENSP00000404754.3:p.Pro1206His | |
| ENST00000676453.1:c.3030C>A (EIF4G1) | ENSP00000501695.1:n.3030C>A | |
| ENST00000319274.10:c.3086C>A (EIF4G1) | ENSP00000323737.7:p.Pro1029His | |
| ENST00000342981.8:c.3686C>A (EIF4G1) | ENSP00000343450.4:p.Pro1229His | |
| ENST00000346169.6:c.3683C>A (EIF4G1) | ENSP00000316879.4:p.Pro1228His | |
| ENST00000350481.9:c.3191C>A (EIF4G1) | ENSP00000317600.8:p.Pro1064His | |
| ENST00000352767.7:c.3704C>A (EIF4G1) | ENSP00000338020.4:p.Pro1235His | |
| ENST00000382330.7:c.3704C>A (EIF4G1) | ENSP00000371767.3:p.Pro1235His | |
| ENST00000392537.6:c.3422C>A (EIF4G1) | ENSP00000376320.2:p.Pro1141His | |
| ENST00000411531.5:c.3566C>A (EIF4G1) | ENSP00000395974.1:p.Pro1189His | |
| ENST00000414031.5:c.3563C>A (EIF4G1) | ENSP00000391935.1:p.Pro1188His | |
| ENST00000424196.5:c.3704C>A (EIF4G1) | ENSP00000416255.1:p.Pro1235His | |
| ENST00000427845.5:c.3425C>A (EIF4G1) | ENSP00000407682.1:p.Pro1142His | |
| ENST00000434061.6:c.3098C>A (EIF4G1) | ENSP00000411826.2:p.Pro1033His | |
| ENST00000435046.6:c.3095C>A (EIF4G1) | ENSP00000404754.2:p.Pro1032His | |
| ENST00000441154.5:c.3194C>A (EIF4G1) | ENSP00000399858.1:p.Pro1065His | |
| ENST00000442406.5:c.*3122C>A (EIF4G1) | ENSP00000400351.1:n.*3122C>A | |
| ENST00000444495.1:c.2106+182900C>A (EIF2B5) | ENSP00000409142.1:n.2106+182900C>A | |
| ENST00000482303.1:n.185C>A (EIF4G1) | ||
| NM_001194946.1:c.3704C>A (EIF4G1) | NP_001181875.1:p.Pro1235His | |
| NM_001194947.1:c.3704C>A (EIF4G1) | NP_001181876.1:p.Pro1235His | |
| NM_001291157.1:c.3563C>A (EIF4G1) | NP_001278086.1:p.Pro1188His | |
| NM_004953.4:c.3098C>A (EIF4G1) | NP_004944.3:p.Pro1033His | |
| NM_182917.4:c.3686C>A (EIF4G1) | NP_886553.3:p.Pro1229His | |
| NM_198241.2:c.3683C>A (EIF4G1) | NP_937884.1:p.Pro1228His | |
| NM_198242.2:c.3191C>A (EIF4G1) | NP_937885.1:p.Pro1064His | |
| NM_198244.2:c.3422C>A (EIF4G1) | NP_937887.1:p.Pro1141His | |
| NM_001194946.2:c.3704C>A (EIF4G1) | NP_001181875.2:p.Pro1235His | |
| NM_001291157.2:c.3563C>A (EIF4G1) | NP_001278086.2:p.Pro1188His | |
| NM_004953.5:c.3098C>A (EIF4G1) | NP_004944.3:p.Pro1033His | |
| NM_198241.3:c.3683C>A (EIF4G1) MANE Select | NP_937884.2:p.Pro1228His | |
| NM_198242.3:c.3191C>A (EIF4G1) | NP_937885.1:p.Pro1064His | |
| NM_198244.3:c.3422C>A (EIF4G1) | NP_937887.2:p.Pro1141His | |
| NM_001194947.2:c.3704C>A (EIF4G1) | NP_001181876.2:p.Pro1235His |