Linked Data
ClinVar Variation Id:
864935
ClinVar RCV Id:
RCV001072233
dbSNP Id:
rs2050883369
MyVariant Identifiers:
chr17:g.41197797T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045780T>G , CM000679.2:g.43045780T>G | GRCh38 |
| NC_000017.10:g.41197797T>G , CM000679.1:g.41197797T>G | GRCh37 |
| NC_000017.9:g.38451323T>G | NCBI36 |
| NG_005905.2:g.172204A>C , LRG_292:g.172204A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5487A>C | ENSP00000417241.2:p.Ala1829= | |
| ENST00000470026.6:c.5490A>C | ENSP00000419274.2:p.Ala1830= | |
| ENST00000473961.6:c.5364A>C | ENSP00000420201.2:p.Ala1788= | |
| ENST00000476777.6:c.5484A>C | ENSP00000417554.2:p.Ala1828= | |
| ENST00000477152.6:c.5412A>C | ENSP00000419988.2:p.Ala1804= | |
| ENST00000478531.6:c.2178A>C | ENSP00000420412.2:p.Ala726= | |
| ENST00000489037.2:c.5412A>C | ENSP00000420781.2:p.Ala1804= | |
| ENST00000493919.6:c.2040A>C | ENSP00000418819.2:p.Ala680= | |
| ENST00000494123.6:c.5490A>C | ENSP00000419103.2:p.Ala1830= | |
| ENST00000497488.2:c.4602A>C | ENSP00000418986.2:p.Ala1534= | |
| ENST00000618469.2:c.5490A>C | ENSP00000478114.2:p.Ala1830= | |
| ENST00000634433.2:c.5367A>C | ENSP00000489431.2:p.Ala1789= | |
| ENST00000644379.2:c.5556A>C | ENSP00000496570.2:p.Ala1852= | |
| ENST00000644555.2:c.2040A>C | ENSP00000494614.2:p.Ala680= | |
| ENST00000652672.2:c.5349A>C | ENSP00000498906.2:p.Ala1783= | |
| ENST00000484087.6:c.2052A>C | ENSP00000419481.2:p.Ala684= | |
| ENST00000700081.1:n.1373A>C | ||
| ENST00000700082.1:n.854A>C | ||
| ENST00000357654.9:c.5490A>C MANE Select | ENSP00000350283.3:p.Ala1830= | |
| ENST00000471181.7:c.5553A>C | ENSP00000418960.2:p.Ala1851= | |
| ENST00000644379.1:c.1877A>C | ||
| ENST00000352993.7:c.2064A>C | ENSP00000312236.5:p.Ala688= | |
| ENST00000357654.7:c.5490A>C | ENSP00000350283.3:p.Ala1830= | |
| ENST00000461221.5:c.*5273A>C | ENSP00000418548.1:n.*5273A>C | |
| ENST00000468300.5:c.*4A>C | ENSP00000417148.1:n.*4A>C | |
| ENST00000471181.6:c.5553A>C | ENSP00000418960.2:p.Ala1851= | |
| ENST00000491747.6:c.2178A>C | ENSP00000420705.2:p.Ala726= | |
| ENST00000493795.5:c.5349A>C | ENSP00000418775.1:p.Ala1783= | |
| ENST00000586385.5:c.420A>C | ENSP00000465818.1:p.Ala140= | |
| ENST00000591534.5:c.963A>C | ENSP00000467329.1:p.Ala321= | |
| ENST00000591849.5:c.189A>C | ENSP00000465347.1:p.Ala63= | |
| NM_007294.3:c.5490A>C , LRG_292t1:c.5490A>C | NP_009225.1:p.Ala1830= | |
| NM_007297.3:c.5349A>C | NP_009228.2:p.Ala1783= | |
| NM_007298.3:c.2178A>C | NP_009229.2:p.Ala726= | |
| NM_007299.3:c.*4A>C | NP_009230.2:n.*4A>C | |
| NM_007300.3:c.5553A>C | NP_009231.2:p.Ala1851= | |
| NR_027676.1:n.5626A>C | ||
| NM_007294.4:c.5490A>C MANE Select | NP_009225.1:p.Ala1830= | |
| NM_007297.4:c.5349A>C | NP_009228.2:p.Ala1783= | |
| NM_007299.4:c.*4A>C | NP_009230.2:n.*4A>C | |
| NM_007300.4:c.5553A>C | NP_009231.2:p.Ala1851= | |
| NR_027676.2:n.5667A>C |