Linked Data
ClinVar Variation Id:
208821
ClinVar RCV Id:
RCV002257485
dbSNP Id:
rs147149347
ExAC:
7:55249007 G / A
gnomAD v2:
7-55249007-G-A
gnomAD v3:
7-55181314-G-A
gnomAD v4:
7-55181314-G-A
COSMIC:
COSM13425
PubMed:
PMID:15623594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55181314G>A , CM000669.2:g.55181314G>A | GRCh38 |
| NC_000007.13:g.55249007G>A , CM000669.1:g.55249007G>A | GRCh37 |
| NC_000007.12:g.55216501G>A | NCBI36 |
| NG_007726.3:g.167283G>A , LRG_304:g.167283G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2146G>A (EGFR) | ENSP00000413354.2:p.Val716Met | |
| ENST00000700145.1:c.654G>A (EGFR) | ||
| ENST00000275493.7:c.2305G>A (EGFR) MANE Select | ENSP00000275493.2:p.Val769Met | |
| ENST00000275493.6:c.2305G>A (EGFR) | ENSP00000275493.2:p.Val769Met | |
| ENST00000442591.5:c.*28+8386G>A (EGFR) | ENSP00000410031.1:n.*28+8386G>A | |
| ENST00000454757.6:c.2170G>A (EGFR) | ENSP00000395243.3:p.Val724Met | |
| ENST00000455089.5:c.2170G>A (EGFR) | ENSP00000415559.1:p.Val724Met | |
| NM_005228.3:c.2305G>A , LRG_304t1:c.2305G>A (EGFR) | NP_005219.2:p.Val769Met | |
| NR_047551.1:n.1257C>T (EGFR-AS1) | ||
| NM_001346897.1:c.2170G>A (EGFR) | NP_001333826.1:p.Val724Met | |
| NM_001346898.1:c.2305G>A (EGFR) | NP_001333827.1:p.Val769Met | |
| NM_001346899.1:c.2170G>A (EGFR) | NP_001333828.1:p.Val724Met | |
| NM_001346900.1:c.2146G>A (EGFR) | NP_001333829.1:p.Val716Met | |
| NM_001346941.1:c.1504G>A (EGFR) | NP_001333870.1:p.Val502Met | |
| NM_005228.4:c.2305G>A (EGFR) | NP_005219.2:p.Val769Met | |
| NM_005228.5:c.2305G>A (EGFR) MANE Select | NP_005219.2:p.Val769Met | |
| NM_001346897.2:c.2170G>A (EGFR) | NP_001333826.1:p.Val724Met | |
| NM_001346898.2:c.2305G>A (EGFR) | NP_001333827.1:p.Val769Met | |
| NM_001346900.2:c.2146G>A (EGFR) | NP_001333829.1:p.Val716Met | |
| NM_001346941.2:c.1504G>A (EGFR) | NP_001333870.1:p.Val502Met | |
| NM_001346899.2:c.2170G>A (EGFR) | NP_001333828.1:p.Val724Met |