Linked Data
ClinVar Variation Id:
865505
ClinVar RCV Id:
RCV001072936
dbSNP Id:
rs2050986198
MyVariant Identifiers:
chr17:g.41199691T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047674T>G , CM000679.2:g.43047674T>G | GRCh38 |
| NC_000017.10:g.41199691T>G , CM000679.1:g.41199691T>G | GRCh37 |
| NC_000017.9:g.38453217T>G | NCBI36 |
| NG_005905.2:g.170310A>C , LRG_292:g.170310A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5433A>C | ENSP00000417241.2:p.Pro1811= | |
| ENST00000470026.6:c.5436A>C | ENSP00000419274.2:p.Pro1812= | |
| ENST00000473961.6:c.5310A>C | ENSP00000420201.2:p.Pro1770= | |
| ENST00000476777.6:c.5430A>C | ENSP00000417554.2:p.Pro1810= | |
| ENST00000477152.6:c.5358A>C | ENSP00000419988.2:p.Pro1786= | |
| ENST00000478531.6:c.2124A>C | ENSP00000420412.2:p.Pro708= | |
| ENST00000489037.2:c.5358A>C | ENSP00000420781.2:p.Pro1786= | |
| ENST00000493919.6:c.1986A>C | ENSP00000418819.2:p.Pro662= | |
| ENST00000494123.6:c.5436A>C | ENSP00000419103.2:p.Pro1812= | |
| ENST00000497488.2:c.4548A>C | ENSP00000418986.2:p.Pro1516= | |
| ENST00000618469.2:c.5436A>C | ENSP00000478114.2:p.Pro1812= | |
| ENST00000634433.2:c.5313A>C | ENSP00000489431.2:p.Pro1771= | |
| ENST00000644379.2:c.5502A>C | ENSP00000496570.2:p.Pro1834= | |
| ENST00000644555.2:c.1986A>C | ENSP00000494614.2:p.Pro662= | |
| ENST00000652672.2:c.5295A>C | ENSP00000498906.2:p.Pro1765= | |
| ENST00000484087.6:c.1998A>C | ENSP00000419481.2:p.Pro666= | |
| ENST00000700081.1:n.1319A>C | ||
| ENST00000700082.1:n.800A>C | ||
| ENST00000357654.9:c.5436A>C MANE Select | ENSP00000350283.3:p.Pro1812= | |
| ENST00000471181.7:c.5499A>C | ENSP00000418960.2:p.Pro1833= | |
| ENST00000644379.1:c.1823A>C | ||
| ENST00000352993.7:c.2010A>C | ENSP00000312236.5:p.Pro670= | |
| ENST00000357654.7:c.5436A>C | ENSP00000350283.3:p.Pro1812= | |
| ENST00000461221.5:c.*5219A>C | ENSP00000418548.1:n.*5219A>C | |
| ENST00000468300.5:c.2050A>C | ENSP00000417148.1:p.Arg684= | |
| ENST00000471181.6:c.5499A>C | ENSP00000418960.2:p.Pro1833= | |
| ENST00000491747.6:c.2124A>C | ENSP00000420705.2:p.Pro708= | |
| ENST00000493795.5:c.5295A>C | ENSP00000418775.1:p.Pro1765= | |
| ENST00000586385.5:c.366A>C | ENSP00000465818.1:p.Pro122= | |
| ENST00000591534.5:c.909A>C | ENSP00000467329.1:p.Pro303= | |
| ENST00000591849.5:c.135A>C | ENSP00000465347.1:p.Pro45= | |
| NM_007294.3:c.5436A>C , LRG_292t1:c.5436A>C | NP_009225.1:p.Pro1812= | |
| NM_007297.3:c.5295A>C | NP_009228.2:p.Pro1765= | |
| NM_007298.3:c.2124A>C | NP_009229.2:p.Pro708= | |
| NM_007299.3:c.2050A>C | NP_009230.2:p.Arg684= | |
| NM_007300.3:c.5499A>C | NP_009231.2:p.Pro1833= | |
| NR_027676.1:n.5572A>C | ||
| NM_007294.4:c.5436A>C MANE Select | NP_009225.1:p.Pro1812= | |
| NM_007297.4:c.5295A>C | NP_009228.2:p.Pro1765= | |
| NM_007299.4:c.2050A>C | NP_009230.2:p.Arg684= | |
| NM_007300.4:c.5499A>C | NP_009231.2:p.Pro1833= | |
| NR_027676.2:n.5613A>C |