Linked Data
ClinVar Variation Id:
17681
ClinVar RCV Id:
RCV000019251
RCV000034733
RCV000047867
RCV000120283
RCV000162566
RCV000457953
RCV001170820
RCV002490393
dbSNP Id:
rs1800709
ExAC:
17:41245027 G / A
gnomAD v2:
17-41245027-G-A
gnomAD v3:
17-43093010-G-A
gnomAD v4:
17-43093010-G-A
PubMed:
PMID:8776600
PMID:8968716
PMID:9333265
PMID:9585599
PMID:9760198
PMID:12070551
PMID:12531920
PMID:12900794
PMID:12955716
PMID:15290653
PMID:15533909
PMID:15800311
PMID:16014699
PMID:16267036
PMID:16489001
PMID:16518693
PMID:17279547
PMID:18415037
PMID:20104584
PMID:21203900
PMID:21520273
PMID:21702907
PMID:21990134
PMID:22703879
PMID:22753008
PMID:23469205
PMID:24728327
PMID:24916970
PMID:27495310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093010G>A , CM000679.2:g.43093010G>A | GRCh38 |
| NC_000017.10:g.41245027G>A , CM000679.1:g.41245027G>A | GRCh37 |
| NC_000017.9:g.38498553G>A | NCBI36 |
| NG_005905.2:g.124974C>T , LRG_292:g.124974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.2585C>T | ||
| ENST00000461574.2:c.2521C>T | ENSP00000417241.2:p.Arg841Trp | |
| ENST00000470026.6:c.2521C>T | ENSP00000419274.2:p.Arg841Trp | |
| ENST00000473961.6:c.2395C>T | ENSP00000420201.2:p.Arg799Trp | |
| ENST00000476777.6:c.2518C>T | ENSP00000417554.2:p.Arg840Trp | |
| ENST00000477152.6:c.2443C>T | ENSP00000419988.2:p.Arg815Trp | |
| ENST00000478531.6:c.784+1734C>T | ENSP00000420412.2:n.784+1734C>T | |
| ENST00000489037.2:c.2443C>T | ENSP00000420781.2:p.Arg815Trp | |
| ENST00000493919.6:c.646+1734C>T | ENSP00000418819.2:n.646+1734C>T | |
| ENST00000494123.6:c.2521C>T | ENSP00000419103.2:p.Arg841Trp | |
| ENST00000497488.2:c.1633C>T | ENSP00000418986.2:p.Arg545Trp | |
| ENST00000618469.2:c.2521C>T | ENSP00000478114.2:p.Arg841Trp | |
| ENST00000634433.2:c.2398C>T | ENSP00000489431.2:p.Arg800Trp | |
| ENST00000644379.2:c.2521C>T | ENSP00000496570.2:p.Arg841Trp | |
| ENST00000644555.2:c.646+1734C>T | ENSP00000494614.2:n.646+1734C>T | |
| ENST00000652672.2:c.2380C>T | ENSP00000498906.2:p.Arg794Trp | |
| ENST00000484087.6:c.664+1734C>T | ENSP00000419481.2:n.664+1734C>T | |
| ENST00000700182.1:c.706+1734C>T | ENSP00000514849.1:n.706+1734C>T | |
| ENST00000357654.9:c.2521C>T MANE Select | ENSP00000350283.3:p.Arg841Trp | |
| ENST00000471181.7:c.2521C>T | ENSP00000418960.2:p.Arg841Trp | |
| ENST00000352993.7:c.671-1978C>T | ENSP00000312236.5:n.671-1978C>T | |
| ENST00000354071.7:c.2521C>T | ENSP00000326002.7:p.Arg841Trp | |
| ENST00000357654.7:c.2521C>T | ENSP00000350283.3:p.Arg841Trp | |
| ENST00000461221.5:c.*2304C>T | ENSP00000418548.1:n.*2304C>T | |
| ENST00000468300.5:c.787+1734C>T | ENSP00000417148.1:n.787+1734C>T | |
| ENST00000471181.6:c.2521C>T | ENSP00000418960.2:p.Arg841Trp | |
| ENST00000478531.5:c.784+1734C>T | ENSP00000420412.1:n.784+1734C>T | |
| ENST00000484087.5:c.409+1734C>T | ENSP00000419481.1:n.409+1734C>T | |
| ENST00000487825.5:c.412+1734C>T | ENSP00000418212.1:n.412+1734C>T | |
| ENST00000491747.6:c.787+1734C>T | ENSP00000420705.2:n.787+1734C>T | |
| ENST00000493795.5:c.2380C>T | ENSP00000418775.1:p.Arg794Trp | |
| ENST00000493919.5:c.646+1734C>T | ENSP00000418819.1:n.646+1734C>T | |
| ENST00000586385.5:c.5-29059C>T | ENSP00000465818.1:n.5-29059C>T | |
| ENST00000591534.5:c.-43-18489C>T | ENSP00000467329.1:n.-43-18489C>T | |
| ENST00000591849.5:c.-99+32261C>T | ENSP00000465347.1:n.-99+32261C>T | |
| NM_007294.3:c.2521C>T , LRG_292t1:c.2521C>T | NP_009225.1:p.Arg841Trp | |
| NM_007297.3:c.2380C>T | NP_009228.2:p.Arg794Trp | |
| NM_007298.3:c.787+1734C>T | NP_009229.2:n.787+1734C>T | |
| NM_007299.3:c.787+1734C>T | NP_009230.2:n.787+1734C>T | |
| NM_007300.3:c.2521C>T | NP_009231.2:p.Arg841Trp | |
| NR_027676.1:n.2657C>T | ||
| NM_007294.4:c.2521C>T MANE Select | NP_009225.1:p.Arg841Trp | |
| NM_007297.4:c.2380C>T | NP_009228.2:p.Arg794Trp | |
| NM_007299.4:c.787+1734C>T | NP_009230.2:n.787+1734C>T | |
| NM_007300.4:c.2521C>T | NP_009231.2:p.Arg841Trp | |
| NR_027676.2:n.2698C>T |