Linked Data
ClinVar Variation Id:
219775
dbSNP Id:
rs864622244
gnomAD v2:
17-41201172-A-G
gnomAD v4:
17-43049155-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049155A>G , CM000679.2:g.43049155A>G | GRCh38 |
| NC_000017.10:g.41201172A>G , CM000679.1:g.41201172A>G | GRCh37 |
| NC_000017.9:g.38454698A>G | NCBI36 |
| NG_005905.2:g.168829T>C , LRG_292:g.168829T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5369T>C | ENSP00000417241.2:p.Val1790Ala | |
| ENST00000470026.6:c.5372T>C | ENSP00000419274.2:p.Val1791Ala | |
| ENST00000473961.6:c.5246T>C | ENSP00000420201.2:p.Val1749Ala | |
| ENST00000476777.6:c.5366T>C | ENSP00000417554.2:p.Val1789Ala | |
| ENST00000477152.6:c.5294T>C | ENSP00000419988.2:p.Val1765Ala | |
| ENST00000478531.6:c.2060T>C | ENSP00000420412.2:p.Val687Ala | |
| ENST00000489037.2:c.5294T>C | ENSP00000420781.2:p.Val1765Ala | |
| ENST00000493919.6:c.1922T>C | ENSP00000418819.2:p.Val641Ala | |
| ENST00000494123.6:c.5372T>C | ENSP00000419103.2:p.Val1791Ala | |
| ENST00000497488.2:c.4484T>C | ENSP00000418986.2:p.Val1495Ala | |
| ENST00000618469.2:c.5372T>C | ENSP00000478114.2:p.Val1791Ala | |
| ENST00000634433.2:c.5249T>C | ENSP00000489431.2:p.Val1750Ala | |
| ENST00000644379.2:c.5438T>C | ENSP00000496570.2:p.Val1813Ala | |
| ENST00000644555.2:c.1922T>C | ENSP00000494614.2:p.Val641Ala | |
| ENST00000652672.2:c.5231T>C | ENSP00000498906.2:p.Val1744Ala | |
| ENST00000484087.6:c.1934T>C | ENSP00000419481.2:p.Val645Ala | |
| ENST00000700081.1:n.1255T>C | ||
| ENST00000357654.9:c.5372T>C MANE Select | ENSP00000350283.3:p.Val1791Ala | |
| ENST00000471181.7:c.5435T>C | ENSP00000418960.2:p.Val1812Ala | |
| ENST00000644379.1:c.1759T>C | ||
| ENST00000352993.7:c.1946T>C | ENSP00000312236.5:p.Val649Ala | |
| ENST00000357654.7:c.5372T>C | ENSP00000350283.3:p.Val1791Ala | |
| ENST00000461221.5:c.*5155T>C | ENSP00000418548.1:n.*5155T>C | |
| ENST00000468300.5:c.2021-1452T>C | ENSP00000417148.1:n.2021-1452T>C | |
| ENST00000471181.6:c.5435T>C | ENSP00000418960.2:p.Val1812Ala | |
| ENST00000491747.6:c.2060T>C | ENSP00000420705.2:p.Val687Ala | |
| ENST00000493795.5:c.5231T>C | ENSP00000418775.1:p.Val1744Ala | |
| ENST00000586385.5:c.302T>C | ENSP00000465818.1:p.Val101Ala | |
| ENST00000591534.5:c.845T>C | ENSP00000467329.1:p.Val282Ala | |
| ENST00000591849.5:c.71T>C | ENSP00000465347.1:p.Val24Ala | |
| NM_007294.3:c.5372T>C , LRG_292t1:c.5372T>C | NP_009225.1:p.Val1791Ala | |
| NM_007297.3:c.5231T>C | NP_009228.2:p.Val1744Ala | |
| NM_007298.3:c.2060T>C | NP_009229.2:p.Val687Ala | |
| NM_007299.3:c.2021-1452T>C | NP_009230.2:n.2021-1452T>C | |
| NM_007300.3:c.5435T>C | NP_009231.2:p.Val1812Ala | |
| NR_027676.1:n.5508T>C | ||
| NM_007294.4:c.5372T>C MANE Select | NP_009225.1:p.Val1791Ala | |
| NM_007297.4:c.5231T>C | NP_009228.2:p.Val1744Ala | |
| NM_007299.4:c.2021-1452T>C | NP_009230.2:n.2021-1452T>C | |
| NM_007300.4:c.5435T>C | NP_009231.2:p.Val1812Ala | |
| NR_027676.2:n.5549T>C |