Linked Data
ClinVar Variation Id:
865421
ClinVar RCV Id:
RCV001072840
dbSNP Id:
rs2051073782
MyVariant Identifiers:
chr17:g.41201144A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049127A>T , CM000679.2:g.43049127A>T | GRCh38 |
| NC_000017.10:g.41201144A>T , CM000679.1:g.41201144A>T | GRCh37 |
| NC_000017.9:g.38454670A>T | NCBI36 |
| NG_005905.2:g.168857T>A , LRG_292:g.168857T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5397T>A | ENSP00000417241.2:p.Leu1799= | |
| ENST00000470026.6:c.5400T>A | ENSP00000419274.2:p.Leu1800= | |
| ENST00000473961.6:c.5274T>A | ENSP00000420201.2:p.Leu1758= | |
| ENST00000476777.6:c.5394T>A | ENSP00000417554.2:p.Leu1798= | |
| ENST00000477152.6:c.5322T>A | ENSP00000419988.2:p.Leu1774= | |
| ENST00000478531.6:c.2088T>A | ENSP00000420412.2:p.Leu696= | |
| ENST00000489037.2:c.5322T>A | ENSP00000420781.2:p.Leu1774= | |
| ENST00000493919.6:c.1950T>A | ENSP00000418819.2:p.Leu650= | |
| ENST00000494123.6:c.5400T>A | ENSP00000419103.2:p.Leu1800= | |
| ENST00000497488.2:c.4512T>A | ENSP00000418986.2:p.Leu1504= | |
| ENST00000618469.2:c.5400T>A | ENSP00000478114.2:p.Leu1800= | |
| ENST00000634433.2:c.5277T>A | ENSP00000489431.2:p.Leu1759= | |
| ENST00000644379.2:c.5466T>A | ENSP00000496570.2:p.Leu1822= | |
| ENST00000644555.2:c.1950T>A | ENSP00000494614.2:p.Leu650= | |
| ENST00000652672.2:c.5259T>A | ENSP00000498906.2:p.Leu1753= | |
| ENST00000484087.6:c.1962T>A | ENSP00000419481.2:p.Leu654= | |
| ENST00000700081.1:n.1283T>A | ||
| ENST00000357654.9:c.5400T>A MANE Select | ENSP00000350283.3:p.Leu1800= | |
| ENST00000471181.7:c.5463T>A | ENSP00000418960.2:p.Leu1821= | |
| ENST00000644379.1:c.1787T>A | ||
| ENST00000352993.7:c.1974T>A | ENSP00000312236.5:p.Leu658= | |
| ENST00000357654.7:c.5400T>A | ENSP00000350283.3:p.Leu1800= | |
| ENST00000461221.5:c.*5183T>A | ENSP00000418548.1:n.*5183T>A | |
| ENST00000468300.5:c.2021-1424T>A | ENSP00000417148.1:n.2021-1424T>A | |
| ENST00000471181.6:c.5463T>A | ENSP00000418960.2:p.Leu1821= | |
| ENST00000491747.6:c.2088T>A | ENSP00000420705.2:p.Leu696= | |
| ENST00000493795.5:c.5259T>A | ENSP00000418775.1:p.Leu1753= | |
| ENST00000586385.5:c.330T>A | ENSP00000465818.1:p.Leu110= | |
| ENST00000591534.5:c.873T>A | ENSP00000467329.1:p.Leu291= | |
| ENST00000591849.5:c.99T>A | ENSP00000465347.1:p.Leu33= | |
| NM_007294.3:c.5400T>A , LRG_292t1:c.5400T>A | NP_009225.1:p.Leu1800= | |
| NM_007297.3:c.5259T>A | NP_009228.2:p.Leu1753= | |
| NM_007298.3:c.2088T>A | NP_009229.2:p.Leu696= | |
| NM_007299.3:c.2021-1424T>A | NP_009230.2:n.2021-1424T>A | |
| NM_007300.3:c.5463T>A | NP_009231.2:p.Leu1821= | |
| NR_027676.1:n.5536T>A | ||
| NM_007294.4:c.5400T>A MANE Select | NP_009225.1:p.Leu1800= | |
| NM_007297.4:c.5259T>A | NP_009228.2:p.Leu1753= | |
| NM_007299.4:c.2021-1424T>A | NP_009230.2:n.2021-1424T>A | |
| NM_007300.4:c.5463T>A | NP_009231.2:p.Leu1821= | |
| NR_027676.2:n.5577T>A |