Linked Data
ClinVar Variation Id:
376279
ClinVar RCV Id:
RCV000425650
dbSNP Id:
rs121913431
COSMIC:
COSM12986
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55181438G>A , CM000669.2:g.55181438G>A | GRCh38 |
| NC_000007.13:g.55249131G>A , CM000669.1:g.55249131G>A | GRCh37 |
| NC_000007.12:g.55216625G>A | NCBI36 |
| NG_007726.3:g.167407G>A , LRG_304:g.167407G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2270G>A (EGFR) | ENSP00000413354.2:p.Gly757Asp | |
| ENST00000700145.1:c.778G>A (EGFR) | ||
| ENST00000275493.7:c.2429G>A (EGFR) MANE Select | ENSP00000275493.2:p.Gly810Asp | |
| ENST00000275493.6:c.2429G>A (EGFR) | ENSP00000275493.2:p.Gly810Asp | |
| ENST00000442591.5:c.*28+8510G>A (EGFR) | ENSP00000410031.1:n.*28+8510G>A | |
| ENST00000454757.6:c.2294G>A (EGFR) | ENSP00000395243.3:p.Gly765Asp | |
| ENST00000455089.5:c.2294G>A (EGFR) | ENSP00000415559.1:p.Gly765Asp | |
| NM_005228.3:c.2429G>A , LRG_304t1:c.2429G>A (EGFR) | NP_005219.2:p.Gly810Asp | |
| NR_047551.1:n.1133C>T (EGFR-AS1) | ||
| NM_001346897.1:c.2294G>A (EGFR) | NP_001333826.1:p.Gly765Asp | |
| NM_001346898.1:c.2429G>A (EGFR) | NP_001333827.1:p.Gly810Asp | |
| NM_001346899.1:c.2294G>A (EGFR) | NP_001333828.1:p.Gly765Asp | |
| NM_001346900.1:c.2270G>A (EGFR) | NP_001333829.1:p.Gly757Asp | |
| NM_001346941.1:c.1628G>A (EGFR) | NP_001333870.1:p.Gly543Asp | |
| NM_005228.4:c.2429G>A (EGFR) | NP_005219.2:p.Gly810Asp | |
| NM_005228.5:c.2429G>A (EGFR) MANE Select | NP_005219.2:p.Gly810Asp | |
| NM_001346897.2:c.2294G>A (EGFR) | NP_001333826.1:p.Gly765Asp | |
| NM_001346898.2:c.2429G>A (EGFR) | NP_001333827.1:p.Gly810Asp | |
| NM_001346900.2:c.2270G>A (EGFR) | NP_001333829.1:p.Gly757Asp | |
| NM_001346941.2:c.1628G>A (EGFR) | NP_001333870.1:p.Gly543Asp | |
| NM_001346899.2:c.2294G>A (EGFR) | NP_001333828.1:p.Gly765Asp |