Linked Data
ClinVar Variation Id:
185996
dbSNP Id:
rs80357451
gnomAD v2:
17-41199698-A-G
gnomAD v3:
17-43047681-A-G
gnomAD v4:
17-43047681-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047681A>G , CM000679.2:g.43047681A>G | GRCh38 |
| NC_000017.10:g.41199698A>G , CM000679.1:g.41199698A>G | GRCh37 |
| NC_000017.9:g.38453224A>G | NCBI36 |
| NG_005905.2:g.170303T>C , LRG_292:g.170303T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5426T>C | ENSP00000417241.2:p.Val1809Ala | |
| ENST00000470026.6:c.5429T>C | ENSP00000419274.2:p.Val1810Ala | |
| ENST00000473961.6:c.5303T>C | ENSP00000420201.2:p.Val1768Ala | |
| ENST00000476777.6:c.5423T>C | ENSP00000417554.2:p.Val1808Ala | |
| ENST00000477152.6:c.5351T>C | ENSP00000419988.2:p.Val1784Ala | |
| ENST00000478531.6:c.2117T>C | ENSP00000420412.2:p.Val706Ala | |
| ENST00000489037.2:c.5351T>C | ENSP00000420781.2:p.Val1784Ala | |
| ENST00000493919.6:c.1979T>C | ENSP00000418819.2:p.Val660Ala | |
| ENST00000494123.6:c.5429T>C | ENSP00000419103.2:p.Val1810Ala | |
| ENST00000497488.2:c.4541T>C | ENSP00000418986.2:p.Val1514Ala | |
| ENST00000618469.2:c.5429T>C | ENSP00000478114.2:p.Val1810Ala | |
| ENST00000634433.2:c.5306T>C | ENSP00000489431.2:p.Val1769Ala | |
| ENST00000644379.2:c.5495T>C | ENSP00000496570.2:p.Val1832Ala | |
| ENST00000644555.2:c.1979T>C | ENSP00000494614.2:p.Val660Ala | |
| ENST00000652672.2:c.5288T>C | ENSP00000498906.2:p.Val1763Ala | |
| ENST00000484087.6:c.1991T>C | ENSP00000419481.2:p.Val664Ala | |
| ENST00000700081.1:n.1312T>C | ||
| ENST00000700082.1:n.793T>C | ||
| ENST00000357654.9:c.5429T>C MANE Select | ENSP00000350283.3:p.Val1810Ala | |
| ENST00000471181.7:c.5492T>C | ENSP00000418960.2:p.Val1831Ala | |
| ENST00000644379.1:c.1816T>C | ||
| ENST00000352993.7:c.2003T>C | ENSP00000312236.5:p.Val668Ala | |
| ENST00000357654.7:c.5429T>C | ENSP00000350283.3:p.Val1810Ala | |
| ENST00000461221.5:c.*5212T>C | ENSP00000418548.1:n.*5212T>C | |
| ENST00000468300.5:c.2043T>C | ENSP00000417148.1:p.Cys681= | |
| ENST00000471181.6:c.5492T>C | ENSP00000418960.2:p.Val1831Ala | |
| ENST00000491747.6:c.2117T>C | ENSP00000420705.2:p.Val706Ala | |
| ENST00000493795.5:c.5288T>C | ENSP00000418775.1:p.Val1763Ala | |
| ENST00000586385.5:c.359T>C | ENSP00000465818.1:p.Val120Ala | |
| ENST00000591534.5:c.902T>C | ENSP00000467329.1:p.Val301Ala | |
| ENST00000591849.5:c.128T>C | ENSP00000465347.1:p.Val43Ala | |
| NM_007294.3:c.5429T>C , LRG_292t1:c.5429T>C | NP_009225.1:p.Val1810Ala | |
| NM_007297.3:c.5288T>C | NP_009228.2:p.Val1763Ala | |
| NM_007298.3:c.2117T>C | NP_009229.2:p.Val706Ala | |
| NM_007299.3:c.2043T>C | NP_009230.2:p.Cys681= | |
| NM_007300.3:c.5492T>C | NP_009231.2:p.Val1831Ala | |
| NR_027676.1:n.5565T>C | ||
| NM_007294.4:c.5429T>C MANE Select | NP_009225.1:p.Val1810Ala | |
| NM_007297.4:c.5288T>C | NP_009228.2:p.Val1763Ala | |
| NM_007299.4:c.2043T>C | NP_009230.2:p.Cys681= | |
| NM_007300.4:c.5492T>C | NP_009231.2:p.Val1831Ala | |
| NR_027676.2:n.5606T>C |