Linked Data
ClinVar Variation Id:
865386
ClinVar RCV Id:
RCV001072792
dbSNP Id:
rs1597801572
MyVariant Identifiers:
chr17:g.41201177A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049160A>T , CM000679.2:g.43049160A>T | GRCh38 |
| NC_000017.10:g.41201177A>T , CM000679.1:g.41201177A>T | GRCh37 |
| NC_000017.9:g.38454703A>T | NCBI36 |
| NG_005905.2:g.168824T>A , LRG_292:g.168824T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5364T>A | ENSP00000417241.2:p.Ala1788= | |
| ENST00000470026.6:c.5367T>A | ENSP00000419274.2:p.Ala1789= | |
| ENST00000473961.6:c.5241T>A | ENSP00000420201.2:p.Ala1747= | |
| ENST00000476777.6:c.5361T>A | ENSP00000417554.2:p.Ala1787= | |
| ENST00000477152.6:c.5289T>A | ENSP00000419988.2:p.Ala1763= | |
| ENST00000478531.6:c.2055T>A | ENSP00000420412.2:p.Ala685= | |
| ENST00000489037.2:c.5289T>A | ENSP00000420781.2:p.Ala1763= | |
| ENST00000493919.6:c.1917T>A | ENSP00000418819.2:p.Ala639= | |
| ENST00000494123.6:c.5367T>A | ENSP00000419103.2:p.Ala1789= | |
| ENST00000497488.2:c.4479T>A | ENSP00000418986.2:p.Ala1493= | |
| ENST00000618469.2:c.5367T>A | ENSP00000478114.2:p.Ala1789= | |
| ENST00000634433.2:c.5244T>A | ENSP00000489431.2:p.Ala1748= | |
| ENST00000644379.2:c.5433T>A | ENSP00000496570.2:p.Ala1811= | |
| ENST00000644555.2:c.1917T>A | ENSP00000494614.2:p.Ala639= | |
| ENST00000652672.2:c.5226T>A | ENSP00000498906.2:p.Ala1742= | |
| ENST00000484087.6:c.1929T>A | ENSP00000419481.2:p.Ala643= | |
| ENST00000700081.1:n.1250T>A | ||
| ENST00000357654.9:c.5367T>A MANE Select | ENSP00000350283.3:p.Ala1789= | |
| ENST00000471181.7:c.5430T>A | ENSP00000418960.2:p.Ala1810= | |
| ENST00000644379.1:c.1754T>A | ||
| ENST00000352993.7:c.1941T>A | ENSP00000312236.5:p.Ala647= | |
| ENST00000357654.7:c.5367T>A | ENSP00000350283.3:p.Ala1789= | |
| ENST00000461221.5:c.*5150T>A | ENSP00000418548.1:n.*5150T>A | |
| ENST00000468300.5:c.2021-1457T>A | ENSP00000417148.1:n.2021-1457T>A | |
| ENST00000471181.6:c.5430T>A | ENSP00000418960.2:p.Ala1810= | |
| ENST00000491747.6:c.2055T>A | ENSP00000420705.2:p.Ala685= | |
| ENST00000493795.5:c.5226T>A | ENSP00000418775.1:p.Ala1742= | |
| ENST00000586385.5:c.297T>A | ENSP00000465818.1:p.Ala99= | |
| ENST00000591534.5:c.840T>A | ENSP00000467329.1:p.Ala280= | |
| ENST00000591849.5:c.66T>A | ENSP00000465347.1:p.Ala22= | |
| NM_007294.3:c.5367T>A , LRG_292t1:c.5367T>A | NP_009225.1:p.Ala1789= | |
| NM_007297.3:c.5226T>A | NP_009228.2:p.Ala1742= | |
| NM_007298.3:c.2055T>A | NP_009229.2:p.Ala685= | |
| NM_007299.3:c.2021-1457T>A | NP_009230.2:n.2021-1457T>A | |
| NM_007300.3:c.5430T>A | NP_009231.2:p.Ala1810= | |
| NR_027676.1:n.5503T>A | ||
| NM_007294.4:c.5367T>A MANE Select | NP_009225.1:p.Ala1789= | |
| NM_007297.4:c.5226T>A | NP_009228.2:p.Ala1742= | |
| NM_007299.4:c.2021-1457T>A | NP_009230.2:n.2021-1457T>A | |
| NM_007300.4:c.5430T>A | NP_009231.2:p.Ala1810= | |
| NR_027676.2:n.5544T>A |