Linked Data
ClinVar Variation Id:
45241
ClinVar RCV Id:
RCV000038397
dbSNP Id:
rs397517101
COSMIC:
COSM85993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174797A>G , CM000669.2:g.55174797A>G | GRCh38 |
| NC_000007.13:g.55242490A>G , CM000669.1:g.55242490A>G | GRCh37 |
| NC_000007.12:g.55209984A>G | NCBI36 |
| NG_007726.3:g.160766A>G , LRG_304:g.160766A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2101A>G | ENSP00000413354.2:p.Lys701Glu | |
| ENST00000700145.1:c.609A>G | ||
| ENST00000275493.7:c.2260A>G MANE Select | ENSP00000275493.2:p.Lys754Glu | |
| ENST00000275493.6:c.2260A>G | ENSP00000275493.2:p.Lys754Glu | |
| ENST00000442591.5:c.*28+1869A>G | ENSP00000410031.1:n.*28+1869A>G | |
| ENST00000454757.6:c.2125A>G | ENSP00000395243.3:p.Lys709Glu | |
| ENST00000455089.5:c.2125A>G | ENSP00000415559.1:p.Lys709Glu | |
| NM_005228.3:c.2260A>G , LRG_304t1:c.2260A>G | NP_005219.2:p.Lys754Glu | |
| NM_001346897.1:c.2125A>G | NP_001333826.1:p.Lys709Glu | |
| NM_001346898.1:c.2260A>G | NP_001333827.1:p.Lys754Glu | |
| NM_001346899.1:c.2125A>G | NP_001333828.1:p.Lys709Glu | |
| NM_001346900.1:c.2101A>G | NP_001333829.1:p.Lys701Glu | |
| NM_001346941.1:c.1459A>G | NP_001333870.1:p.Lys487Glu | |
| NM_005228.4:c.2260A>G | NP_005219.2:p.Lys754Glu | |
| NM_005228.5:c.2260A>G MANE Select | NP_005219.2:p.Lys754Glu | |
| NM_001346897.2:c.2125A>G | NP_001333826.1:p.Lys709Glu | |
| NM_001346898.2:c.2260A>G | NP_001333827.1:p.Lys754Glu | |
| NM_001346900.2:c.2101A>G | NP_001333829.1:p.Lys701Glu | |
| NM_001346941.2:c.1459A>G | NP_001333870.1:p.Lys487Glu | |
| NM_001346899.2:c.2125A>G | NP_001333828.1:p.Lys709Glu |