Linked Data
ClinVar Variation Id:
16613
ClinVar RCV Id:
RCV000018088
RCV000154232
RCV000154233
RCV000211319
RCV000425417
RCV000557450
RCV001015308
dbSNP Id:
rs121434569
ExAC:
7:55249071 C / T
gnomAD v2:
7-55249071-C-T
gnomAD v3:
7-55181378-C-T
gnomAD v4:
7-55181378-C-T
COSMIC:
COSM6240
PubMed:
PMID:11423618
PMID:15118073
PMID:15118125
PMID:15272417
PMID:15329413
PMID:15728811
PMID:15737014
PMID:15901872
PMID:16258541
PMID:17020982
PMID:17085664
PMID:17332364
PMID:17510392
PMID:18093943
PMID:18227510
PMID:18596266
PMID:18981003
PMID:18992959
PMID:19096324
PMID:19381876
PMID:19589612
PMID:20033049
PMID:20068085
PMID:20129249
PMID:21194487
PMID:21233402
PMID:21248300
PMID:21252721
PMID:21430269
PMID:21531810
PMID:21921847
PMID:22215752
PMID:22452896
PMID:22588155
PMID:22992668
PMID:23102728
PMID:23540867
PMID:23816963
PMID:24065731
PMID:24202392
PMID:24453288
PMID:24478319
PMID:24623981
PMID:24636847
PMID:24658966
PMID:24729716
PMID:24736066
PMID:24736080
PMID:24893891
PMID:25157968
PMID:25668228
PMID:25923549
PMID:25923550
PMID:26515464
PMID:26720284
CIViC:
CA090928
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55181378C>T , CM000669.2:g.55181378C>T | GRCh38 |
| NC_000007.13:g.55249071C>T , CM000669.1:g.55249071C>T | GRCh37 |
| NC_000007.12:g.55216565C>T | NCBI36 |
| NG_007726.3:g.167347C>T , LRG_304:g.167347C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2210C>T (EGFR) | ENSP00000413354.2:p.Thr737Met | |
| ENST00000700145.1:c.718C>T (EGFR) | ||
| ENST00000275493.7:c.2369C>T (EGFR) MANE Select | ENSP00000275493.2:p.Thr790Met | |
| ENST00000275493.6:c.2369C>T (EGFR) | ENSP00000275493.2:p.Thr790Met | |
| ENST00000442591.5:c.*28+8450C>T (EGFR) | ENSP00000410031.1:n.*28+8450C>T | |
| ENST00000454757.6:c.2234C>T (EGFR) | ENSP00000395243.3:p.Thr745Met | |
| ENST00000455089.5:c.2234C>T (EGFR) | ENSP00000415559.1:p.Thr745Met | |
| NM_005228.3:c.2369C>T , LRG_304t1:c.2369C>T (EGFR) | NP_005219.2:p.Thr790Met | |
| NR_047551.1:n.1193G>A (EGFR-AS1) | ||
| NM_001346897.1:c.2234C>T (EGFR) | NP_001333826.1:p.Thr745Met | |
| NM_001346898.1:c.2369C>T (EGFR) | NP_001333827.1:p.Thr790Met | |
| NM_001346899.1:c.2234C>T (EGFR) | NP_001333828.1:p.Thr745Met | |
| NM_001346900.1:c.2210C>T (EGFR) | NP_001333829.1:p.Thr737Met | |
| NM_001346941.1:c.1568C>T (EGFR) | NP_001333870.1:p.Thr523Met | |
| NM_005228.4:c.2369C>T (EGFR) | NP_005219.2:p.Thr790Met | |
| NM_005228.5:c.2369C>T (EGFR) MANE Select | NP_005219.2:p.Thr790Met | |
| NM_001346897.2:c.2234C>T (EGFR) | NP_001333826.1:p.Thr745Met | |
| NM_001346898.2:c.2369C>T (EGFR) | NP_001333827.1:p.Thr790Met | |
| NM_001346900.2:c.2210C>T (EGFR) | NP_001333829.1:p.Thr737Met | |
| NM_001346941.2:c.1568C>T (EGFR) | NP_001333870.1:p.Thr523Met | |
| NM_001346899.2:c.2234C>T (EGFR) | NP_001333828.1:p.Thr745Met |