Linked Data
ClinVar Variation Id:
55317
dbSNP Id:
rs397509205
COSMIC:
COSM95581
PubMed:
PMID:18311584
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43070984C>A , CM000679.2:g.43070984C>A | GRCh38 |
| NC_000017.10:g.41223001C>A , CM000679.1:g.41223001C>A | GRCh37 |
| NC_000017.9:g.38476527C>A | NCBI36 |
| NG_005905.2:g.147000G>T , LRG_292:g.147000G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4927G>T | ENSP00000417241.2:p.Glu1643Ter | |
| ENST00000470026.6:c.4930G>T | ENSP00000419274.2:p.Glu1644Ter | |
| ENST00000473961.6:c.4804G>T | ENSP00000420201.2:p.Glu1602Ter | |
| ENST00000476777.6:c.4924G>T | ENSP00000417554.2:p.Glu1642Ter | |
| ENST00000477152.6:c.4852G>T | ENSP00000419988.2:p.Glu1618Ter | |
| ENST00000478531.6:c.1618G>T | ENSP00000420412.2:p.Glu540Ter | |
| ENST00000489037.2:c.4852G>T | ENSP00000420781.2:p.Glu1618Ter | |
| ENST00000493919.6:c.1480G>T | ENSP00000418819.2:p.Glu494Ter | |
| ENST00000494123.6:c.4930G>T | ENSP00000419103.2:p.Glu1644Ter | |
| ENST00000497488.2:c.4042G>T | ENSP00000418986.2:p.Glu1348Ter | |
| ENST00000618469.2:c.4930G>T | ENSP00000478114.2:p.Glu1644Ter | |
| ENST00000634433.2:c.4807G>T | ENSP00000489431.2:p.Glu1603Ter | |
| ENST00000644379.2:c.4996G>T | ENSP00000496570.2:p.Glu1666Ter | |
| ENST00000644555.2:c.1480G>T | ENSP00000494614.2:p.Glu494Ter | |
| ENST00000652672.2:c.4789G>T | ENSP00000498906.2:p.Glu1597Ter | |
| ENST00000484087.6:c.1492G>T | ENSP00000419481.2:p.Glu498Ter | |
| ENST00000700182.1:c.1537G>T | ENSP00000514849.1:p.Glu513Ter | |
| ENST00000357654.9:c.4930G>T MANE Select | ENSP00000350283.3:p.Glu1644Ter | |
| ENST00000471181.7:c.4993G>T | ENSP00000418960.2:p.Glu1665Ter | |
| ENST00000644379.1:c.1317G>T | ||
| ENST00000352993.7:c.1504G>T | ENSP00000312236.5:p.Glu502Ter | |
| ENST00000357654.7:c.4930G>T | ENSP00000350283.3:p.Glu1644Ter | |
| ENST00000461221.5:c.*4713G>T | ENSP00000418548.1:n.*4713G>T | |
| ENST00000468300.5:c.1618G>T | ENSP00000417148.1:p.Glu540Ter | |
| ENST00000471181.6:c.4993G>T | ENSP00000418960.2:p.Glu1665Ter | |
| ENST00000472490.1:n.83G>T | ||
| ENST00000478531.5:c.1618G>T | ENSP00000420412.1:p.Glu540Ter | |
| ENST00000484087.5:c.1243G>T | ENSP00000419481.1:p.Glu415Ter | |
| ENST00000491747.6:c.1618G>T | ENSP00000420705.2:p.Glu540Ter | |
| ENST00000493795.5:c.4789G>T | ENSP00000418775.1:p.Glu1597Ter | |
| ENST00000493919.5:c.1480G>T | ENSP00000418819.1:p.Glu494Ter | |
| ENST00000586385.5:c.5-7033G>T | ENSP00000465818.1:n.5-7033G>T | |
| ENST00000591534.5:c.403G>T | ENSP00000467329.1:p.Glu135Ter | |
| ENST00000591849.5:c.-98-20794G>T | ENSP00000465347.1:n.-98-20794G>T | |
| NM_007294.3:c.4930G>T , LRG_292t1:c.4930G>T | NP_009225.1:p.Glu1644Ter | |
| NM_007297.3:c.4789G>T | NP_009228.2:p.Glu1597Ter | |
| NM_007298.3:c.1618G>T | NP_009229.2:p.Glu540Ter | |
| NM_007299.3:c.1618G>T | NP_009230.2:p.Glu540Ter | |
| NM_007300.3:c.4993G>T | NP_009231.2:p.Glu1665Ter | |
| NR_027676.1:n.5066G>T | ||
| NM_007294.4:c.4930G>T MANE Select | NP_009225.1:p.Glu1644Ter | |
| NM_007297.4:c.4789G>T | NP_009228.2:p.Glu1597Ter | |
| NM_007299.4:c.1618G>T | NP_009230.2:p.Glu540Ter | |
| NM_007300.4:c.4993G>T | NP_009231.2:p.Glu1665Ter | |
| NR_027676.2:n.5107G>T |