Linked Data
ClinVar Variation Id:
868083
ClinVar RCV Id:
RCV001076906
dbSNP Id:
rs2052353460
MyVariant Identifiers:
chr17:g.41222945A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43070928A>G , CM000679.2:g.43070928A>G | GRCh38 |
| NC_000017.10:g.41222945A>G , CM000679.1:g.41222945A>G | GRCh37 |
| NC_000017.9:g.38476471A>G | NCBI36 |
| NG_005905.2:g.147056T>C , LRG_292:g.147056T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4983T>C | ENSP00000417241.2:p.Phe1661= | |
| ENST00000470026.6:c.4986T>C | ENSP00000419274.2:p.Phe1662= | |
| ENST00000473961.6:c.4860T>C | ENSP00000420201.2:p.Phe1620= | |
| ENST00000476777.6:c.4980T>C | ENSP00000417554.2:p.Phe1660= | |
| ENST00000477152.6:c.4908T>C | ENSP00000419988.2:p.Phe1636= | |
| ENST00000478531.6:c.1674T>C | ENSP00000420412.2:p.Phe558= | |
| ENST00000489037.2:c.4908T>C | ENSP00000420781.2:p.Phe1636= | |
| ENST00000493919.6:c.1536T>C | ENSP00000418819.2:p.Phe512= | |
| ENST00000494123.6:c.4986T>C | ENSP00000419103.2:p.Phe1662= | |
| ENST00000497488.2:c.4098T>C | ENSP00000418986.2:p.Phe1366= | |
| ENST00000618469.2:c.4986T>C | ENSP00000478114.2:p.Phe1662= | |
| ENST00000634433.2:c.4863T>C | ENSP00000489431.2:p.Phe1621= | |
| ENST00000644379.2:c.5052T>C | ENSP00000496570.2:p.Phe1684= | |
| ENST00000644555.2:c.1536T>C | ENSP00000494614.2:p.Phe512= | |
| ENST00000652672.2:c.4845T>C | ENSP00000498906.2:p.Phe1615= | |
| ENST00000484087.6:c.1548T>C | ENSP00000419481.2:p.Phe516= | |
| ENST00000700182.1:c.1593T>C | ENSP00000514849.1:p.Phe531= | |
| ENST00000357654.9:c.4986T>C MANE Select | ENSP00000350283.3:p.Phe1662= | |
| ENST00000471181.7:c.5049T>C | ENSP00000418960.2:p.Phe1683= | |
| ENST00000644379.1:c.1373T>C | ||
| ENST00000352993.7:c.1560T>C | ENSP00000312236.5:p.Phe520= | |
| ENST00000357654.7:c.4986T>C | ENSP00000350283.3:p.Phe1662= | |
| ENST00000461221.5:c.*4769T>C | ENSP00000418548.1:n.*4769T>C | |
| ENST00000468300.5:c.1674T>C | ENSP00000417148.1:p.Phe558= | |
| ENST00000471181.6:c.5049T>C | ENSP00000418960.2:p.Phe1683= | |
| ENST00000472490.1:n.139T>C | ||
| ENST00000478531.5:c.1674T>C | ENSP00000420412.1:p.Phe558= | |
| ENST00000484087.5:c.1299T>C | ENSP00000419481.1:p.Phe433= | |
| ENST00000491747.6:c.1674T>C | ENSP00000420705.2:p.Phe558= | |
| ENST00000493795.5:c.4845T>C | ENSP00000418775.1:p.Phe1615= | |
| ENST00000493919.5:c.1536T>C | ENSP00000418819.1:p.Phe512= | |
| ENST00000586385.5:c.5-6977T>C | ENSP00000465818.1:n.5-6977T>C | |
| ENST00000591534.5:c.459T>C | ENSP00000467329.1:p.Phe153= | |
| ENST00000591849.5:c.-98-20738T>C | ENSP00000465347.1:n.-98-20738T>C | |
| NM_007294.3:c.4986T>C , LRG_292t1:c.4986T>C | NP_009225.1:p.Phe1662= | |
| NM_007297.3:c.4845T>C | NP_009228.2:p.Phe1615= | |
| NM_007298.3:c.1674T>C | NP_009229.2:p.Phe558= | |
| NM_007299.3:c.1674T>C | NP_009230.2:p.Phe558= | |
| NM_007300.3:c.5049T>C | NP_009231.2:p.Phe1683= | |
| NR_027676.1:n.5122T>C | ||
| NM_007294.4:c.4986T>C MANE Select | NP_009225.1:p.Phe1662= | |
| NM_007297.4:c.4845T>C | NP_009228.2:p.Phe1615= | |
| NM_007299.4:c.1674T>C | NP_009230.2:p.Phe558= | |
| NM_007300.4:c.5049T>C | NP_009231.2:p.Phe1683= | |
| NR_027676.2:n.5163T>C |