Linked Data
ClinVar Variation Id:
868390
ClinVar RCV Id:
RCV001077284
dbSNP Id:
rs2051082443
gnomAD v4:
17-43049152-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049152A>G , CM000679.2:g.43049152A>G | GRCh38 |
| NC_000017.10:g.41201169A>G , CM000679.1:g.41201169A>G | GRCh37 |
| NC_000017.9:g.38454695A>G | NCBI36 |
| NG_005905.2:g.168832T>C , LRG_292:g.168832T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5372T>C | ENSP00000417241.2:p.Val1791Ala | |
| ENST00000470026.6:c.5375T>C | ENSP00000419274.2:p.Val1792Ala | |
| ENST00000473961.6:c.5249T>C | ENSP00000420201.2:p.Val1750Ala | |
| ENST00000476777.6:c.5369T>C | ENSP00000417554.2:p.Val1790Ala | |
| ENST00000477152.6:c.5297T>C | ENSP00000419988.2:p.Val1766Ala | |
| ENST00000478531.6:c.2063T>C | ENSP00000420412.2:p.Val688Ala | |
| ENST00000489037.2:c.5297T>C | ENSP00000420781.2:p.Val1766Ala | |
| ENST00000493919.6:c.1925T>C | ENSP00000418819.2:p.Val642Ala | |
| ENST00000494123.6:c.5375T>C | ENSP00000419103.2:p.Val1792Ala | |
| ENST00000497488.2:c.4487T>C | ENSP00000418986.2:p.Val1496Ala | |
| ENST00000618469.2:c.5375T>C | ENSP00000478114.2:p.Val1792Ala | |
| ENST00000634433.2:c.5252T>C | ENSP00000489431.2:p.Val1751Ala | |
| ENST00000644379.2:c.5441T>C | ENSP00000496570.2:p.Val1814Ala | |
| ENST00000644555.2:c.1925T>C | ENSP00000494614.2:p.Val642Ala | |
| ENST00000652672.2:c.5234T>C | ENSP00000498906.2:p.Val1745Ala | |
| ENST00000484087.6:c.1937T>C | ENSP00000419481.2:p.Val646Ala | |
| ENST00000700081.1:n.1258T>C | ||
| ENST00000357654.9:c.5375T>C MANE Select | ENSP00000350283.3:p.Val1792Ala | |
| ENST00000471181.7:c.5438T>C | ENSP00000418960.2:p.Val1813Ala | |
| ENST00000644379.1:c.1762T>C | ||
| ENST00000352993.7:c.1949T>C | ENSP00000312236.5:p.Val650Ala | |
| ENST00000357654.7:c.5375T>C | ENSP00000350283.3:p.Val1792Ala | |
| ENST00000461221.5:c.*5158T>C | ENSP00000418548.1:n.*5158T>C | |
| ENST00000468300.5:c.2021-1449T>C | ENSP00000417148.1:n.2021-1449T>C | |
| ENST00000471181.6:c.5438T>C | ENSP00000418960.2:p.Val1813Ala | |
| ENST00000491747.6:c.2063T>C | ENSP00000420705.2:p.Val688Ala | |
| ENST00000493795.5:c.5234T>C | ENSP00000418775.1:p.Val1745Ala | |
| ENST00000586385.5:c.305T>C | ENSP00000465818.1:p.Val102Ala | |
| ENST00000591534.5:c.848T>C | ENSP00000467329.1:p.Val283Ala | |
| ENST00000591849.5:c.74T>C | ENSP00000465347.1:p.Val25Ala | |
| NM_007294.3:c.5375T>C , LRG_292t1:c.5375T>C | NP_009225.1:p.Val1792Ala | |
| NM_007297.3:c.5234T>C | NP_009228.2:p.Val1745Ala | |
| NM_007298.3:c.2063T>C | NP_009229.2:p.Val688Ala | |
| NM_007299.3:c.2021-1449T>C | NP_009230.2:n.2021-1449T>C | |
| NM_007300.3:c.5438T>C | NP_009231.2:p.Val1813Ala | |
| NR_027676.1:n.5511T>C | ||
| NM_007294.4:c.5375T>C MANE Select | NP_009225.1:p.Val1792Ala | |
| NM_007297.4:c.5234T>C | NP_009228.2:p.Val1745Ala | |
| NM_007299.4:c.2021-1449T>C | NP_009230.2:n.2021-1449T>C | |
| NM_007300.4:c.5438T>C | NP_009231.2:p.Val1813Ala | |
| NR_027676.2:n.5552T>C |