Linked Data
ClinVar Variation Id:
7829
ClinVar RCV Id:
RCV000008275
RCV000131067
RCV000212880
RCV000178761
RCV000419778
RCV000422627
RCV000435236
RCV000420647
RCV000437651
RCV000421074
RCV000429864
RCV000420485
RCV000432211
RCV000427853
RCV000438720
RCV000429175
RCV000439397
RCV000440076
RCV000432862
RCV002228017
dbSNP Id:
rs121909229
gnomAD v4:
10-87933148-G-A
COSMIC:
COSM5033
PubMed:
PMID:9915974
PMID:10866302
PMID:11504908
PMID:11875759
PMID:16773562
PMID:17942903
PMID:18767981
PMID:19457929
PMID:20085938
PMID:20300775
PMID:21659347
PMID:21822720
PMID:22266152
PMID:22320991
PMID:22327138
PMID:22595938
PMID:23399955
PMID:23470840
PMID:23891399
PMID:25157968
PMID:26619011
PMID:26798346
PMID:27477328
ERepo:
CA000437/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933148G>A , CM000672.2:g.87933148G>A | GRCh38 |
| NC_000010.10:g.89692905G>A , CM000672.1:g.89692905G>A | GRCh37 |
| NC_000010.9:g.89682885G>A | NCBI36 |
| NG_007466.2:g.74710G>A , LRG_311:g.74710G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.389G>A | ENSP00000514759.2:p.Arg130Gln | |
| ENST00000710265.1:c.389G>A | ENSP00000518161.1:p.Arg130Gln | |
| ENST00000472832.3:c.389G>A | ENSP00000483066.2:p.Arg130Gln | |
| ENST00000688158.2:n.1124G>A | ||
| ENST00000688922.2:c.*219G>A | ENSP00000508742.2:n.*219G>A | |
| ENST00000700021.1:c.344G>A | ENSP00000514757.1:p.Arg115Gln | |
| ENST00000700022.1:c.389G>A | ENSP00000514758.1:p.Arg130Gln | |
| ENST00000700029.1:c.223G>A | ||
| ENST00000706954.1:c.389G>A | ENSP00000516674.1:p.Arg130Gln | |
| ENST00000706955.1:c.*424G>A | ENSP00000516675.1:n.*424G>A | |
| ENST00000686459.1:c.389G>A | ENSP00000508909.1:p.Arg130Gln | |
| ENST00000688158.1:c.*500G>A | ENSP00000509254.1:n.*500G>A | |
| ENST00000688308.1:c.389G>A | ENSP00000508752.1:p.Arg130Gln | |
| ENST00000688922.1:c.310G>A | ||
| ENST00000693560.1:c.908G>A | ENSP00000509861.1:p.Arg303Gln | |
| ENST00000371953.8:c.389G>A MANE Select | ENSP00000361021.3:p.Arg130Gln | |
| ENST00000371953.7:c.389G>A | ENSP00000361021.3:p.Arg130Gln | |
| ENST00000498703.1:n.215G>A | ||
| ENST00000610634.1:c.287G>A | ENSP00000477517.1:p.Arg96Gln | |
| NM_000314.5:c.389G>A | NP_000305.3:p.Arg130Gln | |
| NM_000314.6:c.389G>A | NP_000305.3:p.Arg130Gln | |
| NM_001304717.2:c.908G>A | NP_001291646.2:p.Arg303Gln | |
| NM_001304718.1:c.-362G>A | NP_001291647.1:n.-362G>A | |
| XM_006717926.2:c.344G>A | XP_006717989.1:p.Arg115Gln | |
| XM_011539981.1:c.389G>A | XP_011538283.1:p.Arg130Gln | |
| XM_011539982.1:c.293G>A | XP_011538284.1:p.Arg98Gln | |
| XR_945789.1:n.1101G>A | ||
| XR_945790.1:n.1101G>A | ||
| XR_945791.1:n.1101G>A | ||
| NM_000314.7:c.389G>A | NP_000305.3:p.Arg130Gln | |
| NM_001304717.5:c.908G>A | NP_001291646.4:p.Arg303Gln | |
| NM_001304718.2:c.-362G>A | NP_001291647.1:n.-362G>A | |
| NM_000314.8:c.389G>A MANE Select | NP_000305.3:p.Arg130Gln |