Linked Data
ClinVar Variation Id:
1553242
ClinVar RCV Id:
RCV002187447
dbSNP Id:
rs769195278
ExAC:
7:55249144 G / T
gnomAD v2:
7-55249144-G-T
gnomAD v4:
7-55181451-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55181451G>T , CM000669.2:g.55181451G>T | GRCh38 |
| NC_000007.13:g.55249144G>T , CM000669.1:g.55249144G>T | GRCh37 |
| NC_000007.12:g.55216638G>T | NCBI36 |
| NG_007726.3:g.167420G>T , LRG_304:g.167420G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2283G>T (EGFR) | ENSP00000413354.2:p.Leu761= | |
| ENST00000700145.1:c.791G>T (EGFR) | ||
| ENST00000275493.7:c.2442G>T (EGFR) MANE Select | ENSP00000275493.2:p.Leu814= | |
| ENST00000275493.6:c.2442G>T (EGFR) | ENSP00000275493.2:p.Leu814= | |
| ENST00000442591.5:c.*28+8523G>T (EGFR) | ENSP00000410031.1:n.*28+8523G>T | |
| ENST00000454757.6:c.2307G>T (EGFR) | ENSP00000395243.3:p.Leu769= | |
| ENST00000455089.5:c.2307G>T (EGFR) | ENSP00000415559.1:p.Leu769= | |
| NM_005228.3:c.2442G>T , LRG_304t1:c.2442G>T (EGFR) | NP_005219.2:p.Leu814= | |
| NR_047551.1:n.1120C>A (EGFR-AS1) | ||
| NM_001346897.1:c.2307G>T (EGFR) | NP_001333826.1:p.Leu769= | |
| NM_001346898.1:c.2442G>T (EGFR) | NP_001333827.1:p.Leu814= | |
| NM_001346899.1:c.2307G>T (EGFR) | NP_001333828.1:p.Leu769= | |
| NM_001346900.1:c.2283G>T (EGFR) | NP_001333829.1:p.Leu761= | |
| NM_001346941.1:c.1641G>T (EGFR) | NP_001333870.1:p.Leu547= | |
| NM_005228.4:c.2442G>T (EGFR) | NP_005219.2:p.Leu814= | |
| NM_005228.5:c.2442G>T (EGFR) MANE Select | NP_005219.2:p.Leu814= | |
| NM_001346897.2:c.2307G>T (EGFR) | NP_001333826.1:p.Leu769= | |
| NM_001346898.2:c.2442G>T (EGFR) | NP_001333827.1:p.Leu814= | |
| NM_001346900.2:c.2283G>T (EGFR) | NP_001333829.1:p.Leu761= | |
| NM_001346941.2:c.1641G>T (EGFR) | NP_001333870.1:p.Leu547= | |
| NM_001346899.2:c.2307G>T (EGFR) | NP_001333828.1:p.Leu769= |