Linked Data
ClinVar Variation Id:
876388
ClinVar RCV Id:
RCV001101125
dbSNP Id:
rs758071137
ExAC:
1:236918409 A / G
gnomAD v2:
1-236918409-A-G
gnomAD v4:
1-236755109-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236755109A>G , CM000663.2:g.236755109A>G | GRCh38 |
| NC_000001.10:g.236918409A>G , CM000663.1:g.236918409A>G | GRCh37 |
| NC_000001.9:g.234985032A>G | NCBI36 |
| NG_009081.1:g.73640A>G | |
| NG_009081.2:g.95969A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.2065A>G | ENSP00000443495.1:p.Lys689Glu | |
| ENST00000461367.2:n.361A>G | ||
| ENST00000492634.7:n.1995A>G | ||
| ENST00000682015.1:c.1972A>G | ENSP00000506961.1:p.Lys658Glu | |
| ENST00000682692.1:n.3160A>G | ||
| ENST00000682966.1:n.7706A>G | ||
| ENST00000683111.1:c.*1351A>G | ENSP00000507913.1:n.*1351A>G | |
| ENST00000683322.1:n.3417A>G | ||
| ENST00000683805.1:n.856A>G | ||
| ENST00000684050.1:n.4703A>G | ||
| ENST00000684122.1:n.212A>G | ||
| ENST00000684286.1:n.3620A>G | ||
| ENST00000684502.1:n.3362A>G | ||
| ENST00000684763.1:n.680A>G | ||
| ENST00000366578.6:c.2065A>G MANE Select | ENSP00000355537.4:p.Lys689Glu | |
| ENST00000492634.6:n.1995A>G | ||
| ENST00000542672.6:c.2065A>G | ENSP00000443495.1:p.Lys689Glu | |
| ENST00000651091.1:c.1755A>G | ENSP00000498677.1:n.1755A>G | |
| ENST00000651275.1:c.1957A>G | ENSP00000498926.1:p.Lys653Glu | |
| ENST00000651781.1:c.1145A>G | ||
| ENST00000651786.1:c.*1437A>G | ENSP00000498364.1:n.*1437A>G | |
| ENST00000652096.1:c.*1470A>G | ENSP00000498896.1:n.*1470A>G | |
| ENST00000366578.5:c.2065A>G | ENSP00000355537.4:p.Lys689Glu | |
| ENST00000461367.1:n.274A>G | ||
| ENST00000542672.5:c.2065A>G | ENSP00000443495.1:p.Lys689Glu | |
| ENST00000546208.5:c.1441A>G | ENSP00000438384.2:p.Lys481Glu | |
| NM_001103.3:c.2065A>G | NP_001094.1:p.Lys689Glu | |
| NM_001278343.1:c.2065A>G | NP_001265272.1:p.Lys689Glu | |
| NM_001278344.1:c.1441A>G | NP_001265273.1:p.Lys481Glu | |
| NM_001278343.2:c.2065A>G | NP_001265272.1:p.Lys689Glu | |
| NM_001103.4:c.2065A>G MANE Select | NP_001094.1:p.Lys689Glu | |
| NM_001278344.2:c.1441A>G | NP_001265273.1:p.Lys481Glu |