Linked Data
ClinVar Variation Id:
186496
dbSNP Id:
rs755427809
ExAC:
17:41197714 A / G
gnomAD v2:
17-41197714-A-G
gnomAD v3:
17-43045697-A-G
gnomAD v4:
17-43045697-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045697A>G , CM000679.2:g.43045697A>G | GRCh38 |
| NC_000017.10:g.41197714A>G , CM000679.1:g.41197714A>G | GRCh37 |
| NC_000017.9:g.38451240A>G | NCBI36 |
| NG_005905.2:g.172287T>C , LRG_292:g.172287T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5570T>C | ENSP00000417241.2:p.Ile1857Thr | |
| ENST00000470026.6:c.5573T>C | ENSP00000419274.2:p.Ile1858Thr | |
| ENST00000473961.6:c.5447T>C | ENSP00000420201.2:p.Ile1816Thr | |
| ENST00000476777.6:c.5567T>C | ENSP00000417554.2:p.Ile1856Thr | |
| ENST00000477152.6:c.5495T>C | ENSP00000419988.2:p.Ile1832Thr | |
| ENST00000478531.6:c.2261T>C | ENSP00000420412.2:p.Ile754Thr | |
| ENST00000489037.2:c.5495T>C | ENSP00000420781.2:p.Ile1832Thr | |
| ENST00000493919.6:c.2123T>C | ENSP00000418819.2:p.Ile708Thr | |
| ENST00000494123.6:c.5573T>C | ENSP00000419103.2:p.Ile1858Thr | |
| ENST00000497488.2:c.4685T>C | ENSP00000418986.2:p.Ile1562Thr | |
| ENST00000618469.2:c.5573T>C | ENSP00000478114.2:p.Ile1858Thr | |
| ENST00000634433.2:c.5450T>C | ENSP00000489431.2:p.Ile1817Thr | |
| ENST00000644379.2:c.5639T>C | ENSP00000496570.2:p.Ile1880Thr | |
| ENST00000644555.2:c.2123T>C | ENSP00000494614.2:p.Ile708Thr | |
| ENST00000652672.2:c.5432T>C | ENSP00000498906.2:p.Ile1811Thr | |
| ENST00000484087.6:c.2135T>C | ENSP00000419481.2:p.Ile712Thr | |
| ENST00000700081.1:n.1456T>C | ||
| ENST00000700082.1:n.937T>C | ||
| ENST00000357654.9:c.5573T>C MANE Select | ENSP00000350283.3:p.Ile1858Thr | |
| ENST00000471181.7:c.5636T>C | ENSP00000418960.2:p.Ile1879Thr | |
| ENST00000644379.1:c.1960T>C | ||
| ENST00000352993.7:c.2147T>C | ENSP00000312236.5:p.Ile716Thr | |
| ENST00000357654.7:c.5573T>C | ENSP00000350283.3:p.Ile1858Thr | |
| ENST00000461221.5:c.*5356T>C | ENSP00000418548.1:n.*5356T>C | |
| ENST00000468300.5:c.*87T>C | ENSP00000417148.1:n.*87T>C | |
| ENST00000471181.6:c.5636T>C | ENSP00000418960.2:p.Ile1879Thr | |
| ENST00000491747.6:c.2261T>C | ENSP00000420705.2:p.Ile754Thr | |
| ENST00000493795.5:c.5432T>C | ENSP00000418775.1:p.Ile1811Thr | |
| ENST00000586385.5:c.503T>C | ENSP00000465818.1:p.Ile168Thr | |
| ENST00000591534.5:c.1046T>C | ENSP00000467329.1:p.Ile349Thr | |
| ENST00000591849.5:c.272T>C | ENSP00000465347.1:p.Ile91Thr | |
| NM_007294.3:c.5573T>C , LRG_292t1:c.5573T>C | NP_009225.1:p.Ile1858Thr | |
| NM_007297.3:c.5432T>C | NP_009228.2:p.Ile1811Thr | |
| NM_007298.3:c.2261T>C | NP_009229.2:p.Ile754Thr | |
| NM_007299.3:c.*87T>C | NP_009230.2:n.*87T>C | |
| NM_007300.3:c.5636T>C | NP_009231.2:p.Ile1879Thr | |
| NR_027676.1:n.5709T>C | ||
| NM_007294.4:c.5573T>C MANE Select | NP_009225.1:p.Ile1858Thr | |
| NM_007297.4:c.5432T>C | NP_009228.2:p.Ile1811Thr | |
| NM_007299.4:c.*87T>C | NP_009230.2:n.*87T>C | |
| NM_007300.4:c.5636T>C | NP_009231.2:p.Ile1879Thr | |
| NR_027676.2:n.5750T>C |