Linked Data
ClinVar Variation Id:
54277
ClinVar RCV Id:
RCV000047505
RCV000111635
RCV000129280
RCV000207331
RCV000237007
RCV000588157
RCV001354022
dbSNP Id:
rs80357445
ExAC:
17:41246038 G / A
gnomAD v2:
17-41246038-G-A
gnomAD v3:
17-43094021-G-A
gnomAD v4:
17-43094021-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094021G>A , CM000679.2:g.43094021G>A | GRCh38 |
| NC_000017.10:g.41246038G>A , CM000679.1:g.41246038G>A | GRCh37 |
| NC_000017.9:g.38499564G>A | NCBI36 |
| NG_005905.2:g.123963C>T , LRG_292:g.123963C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.1574C>T | ||
| ENST00000461574.2:c.1510C>T | ENSP00000417241.2:p.Arg504Cys | |
| ENST00000470026.6:c.1510C>T | ENSP00000419274.2:p.Arg504Cys | |
| ENST00000473961.6:c.1384C>T | ENSP00000420201.2:p.Arg462Cys | |
| ENST00000476777.6:c.1507C>T | ENSP00000417554.2:p.Arg503Cys | |
| ENST00000477152.6:c.1432C>T | ENSP00000419988.2:p.Arg478Cys | |
| ENST00000478531.6:c.784+723C>T | ENSP00000420412.2:n.784+723C>T | |
| ENST00000489037.2:c.1432C>T | ENSP00000420781.2:p.Arg478Cys | |
| ENST00000493919.6:c.646+723C>T | ENSP00000418819.2:n.646+723C>T | |
| ENST00000494123.6:c.1510C>T | ENSP00000419103.2:p.Arg504Cys | |
| ENST00000497488.2:c.622C>T | ENSP00000418986.2:p.Arg208Cys | |
| ENST00000618469.2:c.1510C>T | ENSP00000478114.2:p.Arg504Cys | |
| ENST00000634433.2:c.1387C>T | ENSP00000489431.2:p.Arg463Cys | |
| ENST00000644379.2:c.1510C>T | ENSP00000496570.2:p.Arg504Cys | |
| ENST00000644555.2:c.646+723C>T | ENSP00000494614.2:n.646+723C>T | |
| ENST00000652672.2:c.1369C>T | ENSP00000498906.2:p.Arg457Cys | |
| ENST00000484087.6:c.664+723C>T | ENSP00000419481.2:n.664+723C>T | |
| ENST00000700182.1:c.706+723C>T | ENSP00000514849.1:n.706+723C>T | |
| ENST00000357654.9:c.1510C>T MANE Select | ENSP00000350283.3:p.Arg504Cys | |
| ENST00000471181.7:c.1510C>T | ENSP00000418960.2:p.Arg504Cys | |
| ENST00000652672.1:c.1369C>T | ENSP00000498906.1:p.Arg457Cys | |
| ENST00000352993.7:c.670+1825C>T | ENSP00000312236.5:n.670+1825C>T | |
| ENST00000354071.7:c.1510C>T | ENSP00000326002.7:p.Arg504Cys | |
| ENST00000357654.7:c.1510C>T | ENSP00000350283.3:p.Arg504Cys | |
| ENST00000412061.3:c.861C>T | ||
| ENST00000461221.5:c.*1293C>T | ENSP00000418548.1:n.*1293C>T | |
| ENST00000468300.5:c.787+723C>T | ENSP00000417148.1:n.787+723C>T | |
| ENST00000470026.5:c.1510C>T | ENSP00000419274.1:p.Arg504Cys | |
| ENST00000471181.6:c.1510C>T | ENSP00000418960.2:p.Arg504Cys | |
| ENST00000477152.5:c.1432C>T | ENSP00000419988.1:p.Arg478Cys | |
| ENST00000478531.5:c.784+723C>T | ENSP00000420412.1:n.784+723C>T | |
| ENST00000484087.5:c.409+723C>T | ENSP00000419481.1:n.409+723C>T | |
| ENST00000487825.5:c.412+723C>T | ENSP00000418212.1:n.412+723C>T | |
| ENST00000491747.6:c.787+723C>T | ENSP00000420705.2:n.787+723C>T | |
| ENST00000493795.5:c.1369C>T | ENSP00000418775.1:p.Arg457Cys | |
| ENST00000493919.5:c.646+723C>T | ENSP00000418819.1:n.646+723C>T | |
| ENST00000586385.5:c.5-30070C>T | ENSP00000465818.1:n.5-30070C>T | |
| ENST00000591534.5:c.-43-19500C>T | ENSP00000467329.1:n.-43-19500C>T | |
| ENST00000591849.5:c.-99+31250C>T | ENSP00000465347.1:n.-99+31250C>T | |
| ENST00000634433.1:c.1387C>T | ENSP00000489431.1:p.Arg463Cys | |
| NM_007294.3:c.1510C>T , LRG_292t1:c.1510C>T | NP_009225.1:p.Arg504Cys | |
| NM_007297.3:c.1369C>T | NP_009228.2:p.Arg457Cys | |
| NM_007298.3:c.787+723C>T | NP_009229.2:n.787+723C>T | |
| NM_007299.3:c.787+723C>T | NP_009230.2:n.787+723C>T | |
| NM_007300.3:c.1510C>T | NP_009231.2:p.Arg504Cys | |
| NR_027676.1:n.1646C>T | ||
| NM_007294.4:c.1510C>T MANE Select | NP_009225.1:p.Arg504Cys | |
| NM_007297.4:c.1369C>T | NP_009228.2:p.Arg457Cys | |
| NM_007299.4:c.787+723C>T | NP_009230.2:n.787+723C>T | |
| NM_007300.4:c.1510C>T | NP_009231.2:p.Arg504Cys | |
| NR_027676.2:n.1687C>T |