Linked Data
ClinVar Variation Id:
55125
ClinVar RCV Id:
RCV000077564
RCV000162874
RCV000212181
RCV000496276
RCV000735467
RCV000778172
RCV001353792
dbSNP Id:
rs80357260
gnomAD v2:
17-41242963-G-A
gnomAD v4:
17-43090946-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43090946G>A , CM000679.2:g.43090946G>A | GRCh38 |
| NC_000017.10:g.41242963G>A , CM000679.1:g.41242963G>A | GRCh37 |
| NC_000017.9:g.38496489G>A | NCBI36 |
| NG_005905.2:g.127038C>T , LRG_292:g.127038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4183C>T | ENSP00000417241.2:p.Gln1395Ter | |
| ENST00000470026.6:c.4183C>T | ENSP00000419274.2:p.Gln1395Ter | |
| ENST00000473961.6:c.4057C>T | ENSP00000420201.2:p.Gln1353Ter | |
| ENST00000476777.6:c.4180C>T | ENSP00000417554.2:p.Gln1394Ter | |
| ENST00000477152.6:c.4105C>T | ENSP00000419988.2:p.Gln1369Ter | |
| ENST00000478531.6:c.871C>T | ENSP00000420412.2:p.Gln291Ter | |
| ENST00000489037.2:c.4105C>T | ENSP00000420781.2:p.Gln1369Ter | |
| ENST00000493919.6:c.733C>T | ENSP00000418819.2:p.Gln245Ter | |
| ENST00000494123.6:c.4183C>T | ENSP00000419103.2:p.Gln1395Ter | |
| ENST00000497488.2:c.3295C>T | ENSP00000418986.2:p.Gln1099Ter | |
| ENST00000618469.2:c.4183C>T | ENSP00000478114.2:p.Gln1395Ter | |
| ENST00000634433.2:c.4060C>T | ENSP00000489431.2:p.Gln1354Ter | |
| ENST00000644379.2:c.4183C>T | ENSP00000496570.2:p.Gln1395Ter | |
| ENST00000644555.2:c.733C>T | ENSP00000494614.2:p.Gln245Ter | |
| ENST00000652672.2:c.4042C>T | ENSP00000498906.2:p.Gln1348Ter | |
| ENST00000484087.6:c.751C>T | ENSP00000419481.2:p.Gln251Ter | |
| ENST00000700182.1:c.793C>T | ENSP00000514849.1:p.Gln265Ter | |
| ENST00000357654.9:c.4183C>T MANE Select | ENSP00000350283.3:p.Gln1395Ter | |
| ENST00000471181.7:c.4183C>T | ENSP00000418960.2:p.Gln1395Ter | |
| ENST00000644379.1:c.504C>T | ||
| ENST00000352993.7:c.757C>T | ENSP00000312236.5:p.Gln253Ter | |
| ENST00000357654.7:c.4183C>T | ENSP00000350283.3:p.Gln1395Ter | |
| ENST00000461221.5:c.*3966C>T | ENSP00000418548.1:n.*3966C>T | |
| ENST00000461574.1:c.477C>T | ||
| ENST00000468300.5:c.874C>T | ENSP00000417148.1:p.Gln292Ter | |
| ENST00000471181.6:c.4183C>T | ENSP00000418960.2:p.Gln1395Ter | |
| ENST00000478531.5:c.871C>T | ENSP00000420412.1:p.Gln291Ter | |
| ENST00000484087.5:c.496C>T | ENSP00000419481.1:p.Gln166Ter | |
| ENST00000487825.5:c.499C>T | ENSP00000418212.1:p.Gln167Ter | |
| ENST00000491747.6:c.874C>T | ENSP00000420705.2:p.Gln292Ter | |
| ENST00000493795.5:c.4042C>T | ENSP00000418775.1:p.Gln1348Ter | |
| ENST00000493919.5:c.733C>T | ENSP00000418819.1:p.Gln245Ter | |
| ENST00000586385.5:c.5-26995C>T | ENSP00000465818.1:n.5-26995C>T | |
| ENST00000591534.5:c.-43-16425C>T | ENSP00000467329.1:n.-43-16425C>T | |
| ENST00000591849.5:c.-99+34325C>T | ENSP00000465347.1:n.-99+34325C>T | |
| NM_007294.3:c.4183C>T , LRG_292t1:c.4183C>T | NP_009225.1:p.Gln1395Ter | |
| NM_007297.3:c.4042C>T | NP_009228.2:p.Gln1348Ter | |
| NM_007298.3:c.874C>T | NP_009229.2:p.Gln292Ter | |
| NM_007299.3:c.874C>T | NP_009230.2:p.Gln292Ter | |
| NM_007300.3:c.4183C>T | NP_009231.2:p.Gln1395Ter | |
| NR_027676.1:n.4319C>T | ||
| NM_007294.4:c.4183C>T MANE Select | NP_009225.1:p.Gln1395Ter | |
| NM_007297.4:c.4042C>T | NP_009228.2:p.Gln1348Ter | |
| NM_007299.4:c.874C>T | NP_009230.2:p.Gln292Ter | |
| NM_007300.4:c.4183C>T | NP_009231.2:p.Gln1395Ter | |
| NR_027676.2:n.4360C>T |