Linked Data
ClinVar Variation Id:
37628
ClinVar RCV Id:
RCV000031209
RCV000048762
RCV000509720
RCV000508659
RCV001171419
RCV002247402
RCV004554633
dbSNP Id:
rs80357034
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067610G>A , CM000679.2:g.43067610G>A | GRCh38 |
| NC_000017.10:g.41219627G>A , CM000679.1:g.41219627G>A | GRCh37 |
| NC_000017.9:g.38473153G>A | NCBI36 |
| NG_005905.2:g.150374C>T , LRG_292:g.150374C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5069C>T | ENSP00000417241.2:p.Thr1690Ile | |
| ENST00000470026.6:c.5072C>T | ENSP00000419274.2:p.Thr1691Ile | |
| ENST00000473961.6:c.4946C>T | ENSP00000420201.2:p.Thr1649Ile | |
| ENST00000476777.6:c.5066C>T | ENSP00000417554.2:p.Thr1689Ile | |
| ENST00000477152.6:c.4994C>T | ENSP00000419988.2:p.Thr1665Ile | |
| ENST00000478531.6:c.1760C>T | ENSP00000420412.2:p.Thr587Ile | |
| ENST00000489037.2:c.4994C>T | ENSP00000420781.2:p.Thr1665Ile | |
| ENST00000493919.6:c.1622C>T | ENSP00000418819.2:p.Thr541Ile | |
| ENST00000494123.6:c.5072C>T | ENSP00000419103.2:p.Thr1691Ile | |
| ENST00000497488.2:c.4184C>T | ENSP00000418986.2:p.Thr1395Ile | |
| ENST00000618469.2:c.5072C>T | ENSP00000478114.2:p.Thr1691Ile | |
| ENST00000634433.2:c.4949C>T | ENSP00000489431.2:p.Thr1650Ile | |
| ENST00000644379.2:c.5138C>T | ENSP00000496570.2:p.Thr1713Ile | |
| ENST00000644555.2:c.1622C>T | ENSP00000494614.2:p.Thr541Ile | |
| ENST00000652672.2:c.4931C>T | ENSP00000498906.2:p.Thr1644Ile | |
| ENST00000484087.6:c.1634C>T | ENSP00000419481.2:p.Thr545Ile | |
| ENST00000357654.9:c.5072C>T MANE Select | ENSP00000350283.3:p.Thr1691Ile | |
| ENST00000471181.7:c.5135C>T | ENSP00000418960.2:p.Thr1712Ile | |
| ENST00000644379.1:c.1459C>T | ||
| ENST00000352993.7:c.1646C>T | ENSP00000312236.5:p.Thr549Ile | |
| ENST00000357654.7:c.5072C>T | ENSP00000350283.3:p.Thr1691Ile | |
| ENST00000461221.5:c.*4855C>T | ENSP00000418548.1:n.*4855C>T | |
| ENST00000468300.5:c.1760C>T | ENSP00000417148.1:p.Thr587Ile | |
| ENST00000471181.6:c.5135C>T | ENSP00000418960.2:p.Thr1712Ile | |
| ENST00000472490.1:n.225C>T | ||
| ENST00000478531.5:c.1760C>T | ENSP00000420412.1:p.Thr587Ile | |
| ENST00000484087.5:c.1385C>T | ENSP00000419481.1:p.Thr462Ile | |
| ENST00000491747.6:c.1760C>T | ENSP00000420705.2:p.Thr587Ile | |
| ENST00000493795.5:c.4931C>T | ENSP00000418775.1:p.Thr1644Ile | |
| ENST00000493919.5:c.1622C>T | ENSP00000418819.1:p.Thr541Ile | |
| ENST00000586385.5:c.5-3659C>T | ENSP00000465818.1:n.5-3659C>T | |
| ENST00000591534.5:c.545C>T | ENSP00000467329.1:p.Thr182Ile | |
| ENST00000591849.5:c.-98-17420C>T | ENSP00000465347.1:n.-98-17420C>T | |
| NM_007294.3:c.5072C>T , LRG_292t1:c.5072C>T | NP_009225.1:p.Thr1691Ile | |
| NM_007297.3:c.4931C>T | NP_009228.2:p.Thr1644Ile | |
| NM_007298.3:c.1760C>T | NP_009229.2:p.Thr587Ile | |
| NM_007299.3:c.1760C>T | NP_009230.2:p.Thr587Ile | |
| NM_007300.3:c.5135C>T | NP_009231.2:p.Thr1712Ile | |
| NR_027676.1:n.5208C>T | ||
| NM_007294.4:c.5072C>T MANE Select | NP_009225.1:p.Thr1691Ile | |
| NM_007297.4:c.4931C>T | NP_009228.2:p.Thr1644Ile | |
| NM_007299.4:c.1760C>T | NP_009230.2:p.Thr587Ile | |
| NM_007300.4:c.5135C>T | NP_009231.2:p.Thr1712Ile | |
| NR_027676.2:n.5249C>T |