Linked Data
ClinVar Variation Id:
4119
ClinVar RCV Id:
RCV003221395
dbSNP Id:
rs113994037
PubMed:
PMID:11835386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27366758C>T , CM000664.2:g.27366758C>T | GRCh38 |
| NC_000002.11:g.27589625C>T , CM000664.1:g.27589625C>T | GRCh37 |
| NC_000002.10:g.27443129C>T | NCBI36 |
| NG_009305.1:g.8700G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347454.9:c.1191+1G>A (EIF2B4) MANE Select | ENSP00000233552.6:n.1191+1G>A | |
| ENST00000347454.8:c.1191+1G>A (EIF2B4) | ENSP00000233552.5:n.1191+1G>A | |
| ENST00000405940.6:c.*457+1G>A (EIF2B4) | ENSP00000384375.2:n.*457+1G>A | |
| ENST00000445933.6:c.1188+1G>A (EIF2B4) | ENSP00000394397.2:n.1188+1G>A | |
| ENST00000451130.6:c.1251+1G>A (EIF2B4) | ENSP00000394869.2:n.1251+1G>A | |
| ENST00000475582.5:n.3093G>A (EIF2B4) | ||
| ENST00000493344.6:c.1254+1G>A (EIF2B4) | ENSP00000429323.1:n.1254+1G>A | |
| ENST00000616081.4:c.1182+1G>A (EIF2B4) | ENSP00000477710.1:n.1182+1G>A | |
| ENST00000622434.4:c.*457+1G>A (EIF2B4) | ENSP00000479991.1:n.*457+1G>A | |
| NM_001034116.1:c.1191+1G>A (EIF2B4) | NP_001029288.1:n.1191+1G>A | |
| NM_015636.3:c.1188+1G>A (EIF2B4) | NP_056451.3:n.1188+1G>A | |
| NM_172195.3:c.1251+1G>A (EIF2B4) | NP_751945.2:n.1251+1G>A | |
| XM_005264632.1:c.1146+1G>A (EIF2B4) | XP_005264689.1:n.1146+1G>A | |
| XM_006712132.1:c.1143+1G>A (EIF2B4) | XP_006712195.1:n.1143+1G>A | |
| XM_011533147.1:c.573+1G>A (EIF2B4) | XP_011531449.1:n.573+1G>A | |
| XR_939868.1:n.1772-666C>T (GTF3C2-AS2) | ||
| NM_001318965.1:c.1254+1G>A (EIF2B4) | NP_001305894.1:n.1254+1G>A | |
| NM_001318966.1:c.1146+1G>A (EIF2B4) | NP_001305895.1:n.1146+1G>A | |
| NM_001318967.1:c.1098+1G>A (EIF2B4) | NP_001305896.1:n.1098+1G>A | |
| NM_001318968.1:c.606+1G>A (EIF2B4) | NP_001305897.1:n.606+1G>A | |
| NM_001318969.1:c.573+1G>A (EIF2B4) | NP_001305898.1:n.573+1G>A | |
| XM_011533147.2:c.573+1G>A (EIF2B4) | XP_011531449.1:n.573+1G>A | |
| NM_001034116.2:c.1191+1G>A (EIF2B4) MANE Select | NP_001029288.1:n.1191+1G>A | |
| NM_001318965.2:c.1254+1G>A (EIF2B4) | NP_001305894.1:n.1254+1G>A | |
| NM_001318966.2:c.1146+1G>A (EIF2B4) | NP_001305895.1:n.1146+1G>A | |
| NM_001318967.2:c.1098+1G>A (EIF2B4) | NP_001305896.1:n.1098+1G>A | |
| NM_001318968.2:c.606+1G>A (EIF2B4) | NP_001305897.1:n.606+1G>A | |
| NM_001318969.2:c.573+1G>A (EIF2B4) | NP_001305898.1:n.573+1G>A | |
| NM_015636.4:c.1188+1G>A (EIF2B4) | NP_056451.3:n.1188+1G>A | |
| NM_172195.4:c.1251+1G>A (EIF2B4) | NP_751945.2:n.1251+1G>A |