Linked Data
ClinVar Variation Id:
184426
dbSNP Id:
rs764891781
ExAC:
17:41215949 T / C
gnomAD v2:
17-41215949-T-C
gnomAD v4:
17-43063932-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063932T>C , CM000679.2:g.43063932T>C | GRCh38 |
| NC_000017.10:g.41215949T>C , CM000679.1:g.41215949T>C | GRCh37 |
| NC_000017.9:g.38469475T>C | NCBI36 |
| NG_005905.2:g.154052A>G , LRG_292:g.154052A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5091A>G | ENSP00000417241.2:p.Glu1697= | |
| ENST00000470026.6:c.5094A>G | ENSP00000419274.2:p.Glu1698= | |
| ENST00000473961.6:c.4968A>G | ENSP00000420201.2:p.Glu1656= | |
| ENST00000476777.6:c.5088A>G | ENSP00000417554.2:p.Glu1696= | |
| ENST00000477152.6:c.5016A>G | ENSP00000419988.2:p.Glu1672= | |
| ENST00000478531.6:c.1782A>G | ENSP00000420412.2:p.Glu594= | |
| ENST00000489037.2:c.5016A>G | ENSP00000420781.2:p.Glu1672= | |
| ENST00000493919.6:c.1644A>G | ENSP00000418819.2:p.Glu548= | |
| ENST00000494123.6:c.5094A>G | ENSP00000419103.2:p.Glu1698= | |
| ENST00000497488.2:c.4206A>G | ENSP00000418986.2:p.Glu1402= | |
| ENST00000618469.2:c.5094A>G | ENSP00000478114.2:p.Glu1698= | |
| ENST00000634433.2:c.4971A>G | ENSP00000489431.2:p.Glu1657= | |
| ENST00000644379.2:c.5160A>G | ENSP00000496570.2:p.Glu1720= | |
| ENST00000644555.2:c.1644A>G | ENSP00000494614.2:p.Glu548= | |
| ENST00000652672.2:c.4953A>G | ENSP00000498906.2:p.Glu1651= | |
| ENST00000484087.6:c.1656A>G | ENSP00000419481.2:p.Glu552= | |
| ENST00000357654.9:c.5094A>G MANE Select | ENSP00000350283.3:p.Glu1698= | |
| ENST00000471181.7:c.5157A>G | ENSP00000418960.2:p.Glu1719= | |
| ENST00000644379.1:c.1481A>G | ||
| ENST00000352993.7:c.1668A>G | ENSP00000312236.5:p.Glu556= | |
| ENST00000357654.7:c.5094A>G | ENSP00000350283.3:p.Glu1698= | |
| ENST00000461221.5:c.*4877A>G | ENSP00000418548.1:n.*4877A>G | |
| ENST00000468300.5:c.1782A>G | ENSP00000417148.1:p.Glu594= | |
| ENST00000471181.6:c.5157A>G | ENSP00000418960.2:p.Glu1719= | |
| ENST00000478531.5:c.1782A>G | ENSP00000420412.1:p.Glu594= | |
| ENST00000484087.5:c.1407A>G | ENSP00000419481.1:p.Glu469= | |
| ENST00000491747.6:c.1782A>G | ENSP00000420705.2:p.Glu594= | |
| ENST00000493795.5:c.4953A>G | ENSP00000418775.1:p.Glu1651= | |
| ENST00000493919.5:c.1644A>G | ENSP00000418819.1:p.Glu548= | |
| ENST00000586385.5:c.24A>G | ENSP00000465818.1:p.Glu8= | |
| ENST00000591534.5:c.567A>G | ENSP00000467329.1:p.Glu189= | |
| ENST00000591849.5:c.-98-13742A>G | ENSP00000465347.1:n.-98-13742A>G | |
| NM_007294.3:c.5094A>G , LRG_292t1:c.5094A>G | NP_009225.1:p.Glu1698= | |
| NM_007297.3:c.4953A>G | NP_009228.2:p.Glu1651= | |
| NM_007298.3:c.1782A>G | NP_009229.2:p.Glu594= | |
| NM_007299.3:c.1782A>G | NP_009230.2:p.Glu594= | |
| NM_007300.3:c.5157A>G | NP_009231.2:p.Glu1719= | |
| NR_027676.1:n.5230A>G | ||
| NM_007294.4:c.5094A>G MANE Select | NP_009225.1:p.Glu1698= | |
| NM_007297.4:c.4953A>G | NP_009228.2:p.Glu1651= | |
| NM_007299.4:c.1782A>G | NP_009230.2:p.Glu594= | |
| NM_007300.4:c.5157A>G | NP_009231.2:p.Glu1719= | |
| NR_027676.2:n.5271A>G |