Linked Data
ClinVar Variation Id:
14465
dbSNP Id:
rs121912498
ERepo:
CA248613/MONDO:0011071/008
PubMed:
PMID:11830488
CIViC:
CA248613
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34886866T>C , CM000683.2:g.34886866T>C | GRCh38 |
| NC_000021.8:g.36259163T>C , CM000683.1:g.36259163T>C | GRCh37 |
| NC_000021.7:g.35181033T>C | NCBI36 |
| NG_011402.2:g.1102846A>G , LRG_482:g.1102846A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675419.1:c.328A>G MANE Select | ENSP00000501943.1:p.Lys110Glu | |
| ENST00000300305.7:c.328A>G | ENSP00000300305.3:p.Lys110Glu | |
| ENST00000344691.8:c.247A>G | ENSP00000340690.4:p.Lys83Glu | |
| ENST00000358356.9:c.247A>G | ENSP00000351123.5:p.Lys83Glu | |
| ENST00000399237.6:c.292A>G | ENSP00000382182.2:p.Lys98Glu | |
| ENST00000399240.5:c.247A>G | ENSP00000382184.1:p.Lys83Glu | |
| ENST00000437180.5:c.328A>G | ENSP00000409227.1:p.Lys110Glu | |
| ENST00000455571.5:c.289A>G | ENSP00000388189.1:p.Lys97Glu | |
| ENST00000482318.5:c.59-6153A>G | ENSP00000477067.1:n.59-6153A>G | |
| NM_001001890.2:c.247A>G | NP_001001890.1:p.Lys83Glu | |
| NM_001122607.1:c.247A>G | NP_001116079.1:p.Lys83Glu | |
| NM_001754.4:c.328A>G , LRG_482t1:c.328A>G | NP_001745.2:p.Lys110Glu | |
| XM_005261068.3:c.292A>G | XP_005261125.1:p.Lys98Glu | |
| XM_005261069.3:c.328A>G | XP_005261126.1:p.Lys110Glu | |
| XM_011529766.1:c.328A>G | XP_011528068.1:p.Lys110Glu | |
| XM_011529767.1:c.289A>G | XP_011528069.1:p.Lys97Glu | |
| XM_011529768.1:c.289A>G | XP_011528070.1:p.Lys97Glu | |
| XM_011529770.1:c.328A>G | XP_011528072.1:p.Lys110Glu | |
| XR_937576.1:n.507A>G | ||
| XM_005261069.4:c.328A>G | XP_005261126.1:p.Lys110Glu | |
| XM_011529766.2:c.328A>G | XP_011528068.1:p.Lys110Glu | |
| XM_011529767.2:c.289A>G | XP_011528069.1:p.Lys97Glu | |
| XM_011529768.2:c.289A>G | XP_011528070.1:p.Lys97Glu | |
| XM_011529770.2:c.328A>G | XP_011528072.1:p.Lys110Glu | |
| XM_017028487.1:c.175A>G | XP_016883976.1:p.Lys59Glu | |
| XR_937576.2:n.554A>G | ||
| NM_001001890.3:c.247A>G | NP_001001890.1:p.Lys83Glu | |
| NM_001122607.2:c.247A>G | NP_001116079.1:p.Lys83Glu | |
| NM_001754.5:c.328A>G MANE Select | NP_001745.2:p.Lys110Glu |