Linked Data
ClinVar Variation Id:
868986
ClinVar RCV Id:
RCV001078001
dbSNP Id:
rs2050880700
MyVariant Identifiers:
chr17:g.41197788C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045771C>G , CM000679.2:g.43045771C>G | GRCh38 |
| NC_000017.10:g.41197788C>G , CM000679.1:g.41197788C>G | GRCh37 |
| NC_000017.9:g.38451314C>G | NCBI36 |
| NG_005905.2:g.172213G>C , LRG_292:g.172213G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5496G>C | ENSP00000417241.2:p.Val1832= | |
| ENST00000470026.6:c.5499G>C | ENSP00000419274.2:p.Val1833= | |
| ENST00000473961.6:c.5373G>C | ENSP00000420201.2:p.Val1791= | |
| ENST00000476777.6:c.5493G>C | ENSP00000417554.2:p.Val1831= | |
| ENST00000477152.6:c.5421G>C | ENSP00000419988.2:p.Val1807= | |
| ENST00000478531.6:c.2187G>C | ENSP00000420412.2:p.Val729= | |
| ENST00000489037.2:c.5421G>C | ENSP00000420781.2:p.Val1807= | |
| ENST00000493919.6:c.2049G>C | ENSP00000418819.2:p.Val683= | |
| ENST00000494123.6:c.5499G>C | ENSP00000419103.2:p.Val1833= | |
| ENST00000497488.2:c.4611G>C | ENSP00000418986.2:p.Val1537= | |
| ENST00000618469.2:c.5499G>C | ENSP00000478114.2:p.Val1833= | |
| ENST00000634433.2:c.5376G>C | ENSP00000489431.2:p.Val1792= | |
| ENST00000644379.2:c.5565G>C | ENSP00000496570.2:p.Val1855= | |
| ENST00000644555.2:c.2049G>C | ENSP00000494614.2:p.Val683= | |
| ENST00000652672.2:c.5358G>C | ENSP00000498906.2:p.Val1786= | |
| ENST00000484087.6:c.2061G>C | ENSP00000419481.2:p.Val687= | |
| ENST00000700081.1:n.1382G>C | ||
| ENST00000700082.1:n.863G>C | ||
| ENST00000357654.9:c.5499G>C MANE Select | ENSP00000350283.3:p.Val1833= | |
| ENST00000471181.7:c.5562G>C | ENSP00000418960.2:p.Val1854= | |
| ENST00000644379.1:c.1886G>C | ||
| ENST00000352993.7:c.2073G>C | ENSP00000312236.5:p.Val691= | |
| ENST00000357654.7:c.5499G>C | ENSP00000350283.3:p.Val1833= | |
| ENST00000461221.5:c.*5282G>C | ENSP00000418548.1:n.*5282G>C | |
| ENST00000468300.5:c.*13G>C | ENSP00000417148.1:n.*13G>C | |
| ENST00000471181.6:c.5562G>C | ENSP00000418960.2:p.Val1854= | |
| ENST00000491747.6:c.2187G>C | ENSP00000420705.2:p.Val729= | |
| ENST00000493795.5:c.5358G>C | ENSP00000418775.1:p.Val1786= | |
| ENST00000586385.5:c.429G>C | ENSP00000465818.1:p.Val143= | |
| ENST00000591534.5:c.972G>C | ENSP00000467329.1:p.Val324= | |
| ENST00000591849.5:c.198G>C | ENSP00000465347.1:p.Val66= | |
| NM_007294.3:c.5499G>C , LRG_292t1:c.5499G>C | NP_009225.1:p.Val1833= | |
| NM_007297.3:c.5358G>C | NP_009228.2:p.Val1786= | |
| NM_007298.3:c.2187G>C | NP_009229.2:p.Val729= | |
| NM_007299.3:c.*13G>C | NP_009230.2:n.*13G>C | |
| NM_007300.3:c.5562G>C | NP_009231.2:p.Val1854= | |
| NR_027676.1:n.5635G>C | ||
| NM_007294.4:c.5499G>C MANE Select | NP_009225.1:p.Val1833= | |
| NM_007297.4:c.5358G>C | NP_009228.2:p.Val1786= | |
| NM_007299.4:c.*13G>C | NP_009230.2:n.*13G>C | |
| NM_007300.4:c.5562G>C | NP_009231.2:p.Val1854= | |
| NR_027676.2:n.5676G>C |