Linked Data
ClinVar Variation Id:
865484
dbSNP Id:
rs2052354666
MyVariant Identifiers:
chr17:g.41222948T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43070931T>C , CM000679.2:g.43070931T>C | GRCh38 |
| NC_000017.10:g.41222948T>C , CM000679.1:g.41222948T>C | GRCh37 |
| NC_000017.9:g.38476474T>C | NCBI36 |
| NG_005905.2:g.147053A>G , LRG_292:g.147053A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4980A>G | ENSP00000417241.2:p.Glu1660= | |
| ENST00000470026.6:c.4983A>G | ENSP00000419274.2:p.Glu1661= | |
| ENST00000473961.6:c.4857A>G | ENSP00000420201.2:p.Glu1619= | |
| ENST00000476777.6:c.4977A>G | ENSP00000417554.2:p.Glu1659= | |
| ENST00000477152.6:c.4905A>G | ENSP00000419988.2:p.Glu1635= | |
| ENST00000478531.6:c.1671A>G | ENSP00000420412.2:p.Glu557= | |
| ENST00000489037.2:c.4905A>G | ENSP00000420781.2:p.Glu1635= | |
| ENST00000493919.6:c.1533A>G | ENSP00000418819.2:p.Glu511= | |
| ENST00000494123.6:c.4983A>G | ENSP00000419103.2:p.Glu1661= | |
| ENST00000497488.2:c.4095A>G | ENSP00000418986.2:p.Glu1365= | |
| ENST00000618469.2:c.4983A>G | ENSP00000478114.2:p.Glu1661= | |
| ENST00000634433.2:c.4860A>G | ENSP00000489431.2:p.Glu1620= | |
| ENST00000644379.2:c.5049A>G | ENSP00000496570.2:p.Glu1683= | |
| ENST00000644555.2:c.1533A>G | ENSP00000494614.2:p.Glu511= | |
| ENST00000652672.2:c.4842A>G | ENSP00000498906.2:p.Glu1614= | |
| ENST00000484087.6:c.1545A>G | ENSP00000419481.2:p.Glu515= | |
| ENST00000700182.1:c.1590A>G | ENSP00000514849.1:p.Glu530= | |
| ENST00000357654.9:c.4983A>G MANE Select | ENSP00000350283.3:p.Glu1661= | |
| ENST00000471181.7:c.5046A>G | ENSP00000418960.2:p.Glu1682= | |
| ENST00000644379.1:c.1370A>G | ||
| ENST00000352993.7:c.1557A>G | ENSP00000312236.5:p.Glu519= | |
| ENST00000357654.7:c.4983A>G | ENSP00000350283.3:p.Glu1661= | |
| ENST00000461221.5:c.*4766A>G | ENSP00000418548.1:n.*4766A>G | |
| ENST00000468300.5:c.1671A>G | ENSP00000417148.1:p.Glu557= | |
| ENST00000471181.6:c.5046A>G | ENSP00000418960.2:p.Glu1682= | |
| ENST00000472490.1:n.136A>G | ||
| ENST00000478531.5:c.1671A>G | ENSP00000420412.1:p.Glu557= | |
| ENST00000484087.5:c.1296A>G | ENSP00000419481.1:p.Glu432= | |
| ENST00000491747.6:c.1671A>G | ENSP00000420705.2:p.Glu557= | |
| ENST00000493795.5:c.4842A>G | ENSP00000418775.1:p.Glu1614= | |
| ENST00000493919.5:c.1533A>G | ENSP00000418819.1:p.Glu511= | |
| ENST00000586385.5:c.5-6980A>G | ENSP00000465818.1:n.5-6980A>G | |
| ENST00000591534.5:c.456A>G | ENSP00000467329.1:p.Glu152= | |
| ENST00000591849.5:c.-98-20741A>G | ENSP00000465347.1:n.-98-20741A>G | |
| NM_007294.3:c.4983A>G , LRG_292t1:c.4983A>G | NP_009225.1:p.Glu1661= | |
| NM_007297.3:c.4842A>G | NP_009228.2:p.Glu1614= | |
| NM_007298.3:c.1671A>G | NP_009229.2:p.Glu557= | |
| NM_007299.3:c.1671A>G | NP_009230.2:p.Glu557= | |
| NM_007300.3:c.5046A>G | NP_009231.2:p.Glu1682= | |
| NR_027676.1:n.5119A>G | ||
| NM_007294.4:c.4983A>G MANE Select | NP_009225.1:p.Glu1661= | |
| NM_007297.4:c.4842A>G | NP_009228.2:p.Glu1614= | |
| NM_007299.4:c.1671A>G | NP_009230.2:p.Glu557= | |
| NM_007300.4:c.5046A>G | NP_009231.2:p.Glu1682= | |
| NR_027676.2:n.5160A>G |