Linked Data
ClinVar Variation Id:
868690
dbSNP Id:
rs2051916034
MyVariant Identifiers:
chr17:g.41215916T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063899T>C , CM000679.2:g.43063899T>C | GRCh38 |
| NC_000017.10:g.41215916T>C , CM000679.1:g.41215916T>C | GRCh37 |
| NC_000017.9:g.38469442T>C | NCBI36 |
| NG_005905.2:g.154085A>G , LRG_292:g.154085A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5124A>G | ENSP00000417241.2:p.Gly1708= | |
| ENST00000470026.6:c.5127A>G | ENSP00000419274.2:p.Gly1709= | |
| ENST00000473961.6:c.5001A>G | ENSP00000420201.2:p.Gly1667= | |
| ENST00000476777.6:c.5121A>G | ENSP00000417554.2:p.Gly1707= | |
| ENST00000477152.6:c.5049A>G | ENSP00000419988.2:p.Gly1683= | |
| ENST00000478531.6:c.1815A>G | ENSP00000420412.2:p.Gly605= | |
| ENST00000489037.2:c.5049A>G | ENSP00000420781.2:p.Gly1683= | |
| ENST00000493919.6:c.1677A>G | ENSP00000418819.2:p.Gly559= | |
| ENST00000494123.6:c.5127A>G | ENSP00000419103.2:p.Gly1709= | |
| ENST00000497488.2:c.4239A>G | ENSP00000418986.2:p.Gly1413= | |
| ENST00000618469.2:c.5127A>G | ENSP00000478114.2:p.Gly1709= | |
| ENST00000634433.2:c.5004A>G | ENSP00000489431.2:p.Gly1668= | |
| ENST00000644379.2:c.5193A>G | ENSP00000496570.2:p.Gly1731= | |
| ENST00000644555.2:c.1677A>G | ENSP00000494614.2:p.Gly559= | |
| ENST00000652672.2:c.4986A>G | ENSP00000498906.2:p.Gly1662= | |
| ENST00000484087.6:c.1689A>G | ENSP00000419481.2:p.Gly563= | |
| ENST00000357654.9:c.5127A>G MANE Select | ENSP00000350283.3:p.Gly1709= | |
| ENST00000471181.7:c.5190A>G | ENSP00000418960.2:p.Gly1730= | |
| ENST00000644379.1:c.1514A>G | ||
| ENST00000352993.7:c.1701A>G | ENSP00000312236.5:p.Gly567= | |
| ENST00000357654.7:c.5127A>G | ENSP00000350283.3:p.Gly1709= | |
| ENST00000461221.5:c.*4910A>G | ENSP00000418548.1:n.*4910A>G | |
| ENST00000468300.5:c.1815A>G | ENSP00000417148.1:p.Gly605= | |
| ENST00000471181.6:c.5190A>G | ENSP00000418960.2:p.Gly1730= | |
| ENST00000478531.5:c.1815A>G | ENSP00000420412.1:p.Gly605= | |
| ENST00000484087.5:c.1440A>G | ENSP00000419481.1:p.Gly480= | |
| ENST00000491747.6:c.1815A>G | ENSP00000420705.2:p.Gly605= | |
| ENST00000493795.5:c.4986A>G | ENSP00000418775.1:p.Gly1662= | |
| ENST00000493919.5:c.1677A>G | ENSP00000418819.1:p.Gly559= | |
| ENST00000586385.5:c.57A>G | ENSP00000465818.1:p.Gly19= | |
| ENST00000591534.5:c.600A>G | ENSP00000467329.1:p.Gly200= | |
| ENST00000591849.5:c.-98-13709A>G | ENSP00000465347.1:n.-98-13709A>G | |
| NM_007294.3:c.5127A>G , LRG_292t1:c.5127A>G | NP_009225.1:p.Gly1709= | |
| NM_007297.3:c.4986A>G | NP_009228.2:p.Gly1662= | |
| NM_007298.3:c.1815A>G | NP_009229.2:p.Gly605= | |
| NM_007299.3:c.1815A>G | NP_009230.2:p.Gly605= | |
| NM_007300.3:c.5190A>G | NP_009231.2:p.Gly1730= | |
| NR_027676.1:n.5263A>G | ||
| NM_007294.4:c.5127A>G MANE Select | NP_009225.1:p.Gly1709= | |
| NM_007297.4:c.4986A>G | NP_009228.2:p.Gly1662= | |
| NM_007299.4:c.1815A>G | NP_009230.2:p.Gly605= | |
| NM_007300.4:c.5190A>G | NP_009231.2:p.Gly1730= | |
| NR_027676.2:n.5304A>G |