Linked Data
ClinVar Variation Id:
13808
dbSNP Id:
rs267606705
gnomAD v4:
11-119278214-A-G
COSMIC:
COSM49107
PubMed:
PMID:20619386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278214A>G , CM000673.2:g.119278214A>G | GRCh38 |
| NC_000011.9:g.119148924A>G , CM000673.1:g.119148924A>G | GRCh37 |
| NC_000011.8:g.118654134A>G | NCBI36 |
| NG_016808.1:g.76935A>G , LRG_608:g.76935A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700472.1:c.*596A>G | ENSP00000515005.1:n.*596A>G | |
| ENST00000264033.6:c.1144A>G MANE Select | ENSP00000264033.3:p.Lys382Glu | |
| ENST00000637974.1:c.1138A>G | ENSP00000490763.1:p.Lys380Glu | |
| ENST00000264033.5:c.1144A>G | ENSP00000264033.3:p.Lys382Glu | |
| ENST00000634586.1:c.1144A>G | ENSP00000489218.1:p.Lys382Glu | |
| ENST00000634840.1:c.1144A>G | ENSP00000489324.1:p.Lys382Glu | |
| NM_005188.3:c.1144A>G , LRG_608t1:c.1144A>G | NP_005179.2:p.Lys382Glu | |
| XM_011543057.1:c.1144A>G | XP_011541359.1:p.Lys382Glu | |
| NM_005188.4:c.1144A>G MANE Select | NP_005179.2:p.Lys382Glu |