Linked Data
ClinVar Variation Id:
216970
dbSNP Id:
rs764276946
ExAC:
11:67800721 A / G
gnomAD v2:
11-67800721-A-G
gnomAD v3:
11-68033254-A-G
gnomAD v4:
11-68033254-A-G
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68033254A>G , CM000673.2:g.68033254A>G | GRCh38 |
| NC_000011.9:g.67800721A>G , CM000673.1:g.67800721A>G | GRCh37 |
| NC_000011.8:g.67557297A>G | NCBI36 |
| NG_017040.1:g.7638A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.343A>G MANE Select | ENSP00000315774.5:p.Lys115Glu | |
| ENST00000313468.9:c.343A>G | ENSP00000315774.5:p.Lys115Glu | |
| ENST00000432321.6:n.460A>G | ||
| ENST00000453471.6:c.343A>G | ENSP00000403972.2:p.Lys115Glu | |
| ENST00000524810.5:c.114A>G | ||
| ENST00000525419.5:c.289A>G | ENSP00000433521.1:p.Lys97Glu | |
| ENST00000526339.5:c.343A>G | ENSP00000436287.1:p.Lys115Glu | |
| ENST00000526446.5:c.*398A>G | ENSP00000433645.1:n.*398A>G | |
| ENST00000528492.1:c.-67+2521A>G | ENSP00000432848.1:n.-67+2521A>G | |
| ENST00000529645.1:c.521A>G | ENSP00000431293.1:n.521A>G | |
| ENST00000532399.1:n.1048A>G | ||
| NM_002496.3:c.343A>G | NP_002487.1:p.Lys115Glu | |
| XM_005274013.1:c.343A>G | XP_005274070.1:p.Lys115Glu | |
| XM_005274014.1:c.343A>G | XP_005274071.1:p.Lys115Glu | |
| XM_005274015.1:c.223A>G | XP_005274072.1:p.Lys75Glu | |
| XM_011545053.1:c.343A>G | XP_011543355.1:p.Lys115Glu | |
| NM_002496.4:c.343A>G MANE Select | NP_002487.1:p.Lys115Glu |