Linked Data
ClinVar Variation Id:
189500
ClinVar RCV Id:
RCV000169890
RCV000218276
RCV000445192
RCV000490574
RCV000678738
RCV000850588
RCV002273970
RCV001813763
RCV002478525
RCV003448976
RCV003468848
dbSNP Id:
rs121913293
gnomAD v3:
10-87952142-C-T
gnomAD v4:
10-87952142-C-T
COSMIC:
COSM5089
PubMed:
PMID:10866302
PMID:17526800
PMID:17526801
PMID:22628360
PMID:24778394
PMID:25157968
PMID:25669429
PMID:28526761
ERepo:
CA000498/MONDO:0017623/003
CIViC:
CA000498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952142C>T , CM000672.2:g.87952142C>T | GRCh38 |
| NC_000010.10:g.89711899C>T , CM000672.1:g.89711899C>T | GRCh37 |
| NC_000010.9:g.89701879C>T | NCBI36 |
| NG_007466.2:g.93704C>T , LRG_311:g.93704C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.517C>T | ENSP00000514759.2:p.Arg173Cys | |
| ENST00000710265.1:c.517C>T | ENSP00000518161.1:p.Arg173Cys | |
| ENST00000472832.3:c.517C>T | ENSP00000483066.2:p.Arg173Cys | |
| ENST00000688158.2:n.1252C>T | ||
| ENST00000688922.2:c.*347C>T | ENSP00000508742.2:n.*347C>T | |
| ENST00000700021.1:c.472C>T | ENSP00000514757.1:p.Arg158Cys | |
| ENST00000700022.1:c.493-5711C>T | ENSP00000514758.1:n.493-5711C>T | |
| ENST00000700023.1:n.1675C>T | ||
| ENST00000700024.1:n.1909C>T | ||
| ENST00000700025.1:n.1286C>T | ||
| ENST00000700029.1:c.351C>T | ||
| ENST00000706954.1:c.517C>T | ENSP00000516674.1:p.Arg173Cys | |
| ENST00000706955.1:c.*552C>T | ENSP00000516675.1:n.*552C>T | |
| ENST00000686459.1:c.*103C>T | ENSP00000508909.1:n.*103C>T | |
| ENST00000688158.1:c.*628C>T | ENSP00000509254.1:n.*628C>T | |
| ENST00000688308.1:c.517C>T | ENSP00000508752.1:p.Arg173Cys | |
| ENST00000688922.1:c.438C>T | ||
| ENST00000693560.1:c.1036C>T | ENSP00000509861.1:p.Arg346Cys | |
| ENST00000371953.8:c.517C>T MANE Select | ENSP00000361021.3:p.Arg173Cys | |
| ENST00000371953.7:c.517C>T | ENSP00000361021.3:p.Arg173Cys | |
| NM_000314.5:c.517C>T | NP_000305.3:p.Arg173Cys | |
| NM_000314.6:c.517C>T | NP_000305.3:p.Arg173Cys | |
| NM_001304717.2:c.1036C>T | NP_001291646.2:p.Arg346Cys | |
| NM_001304718.1:c.-75C>T | NP_001291647.1:n.-75C>T | |
| XM_006717926.2:c.472C>T | XP_006717989.1:p.Arg158Cys | |
| XM_011539981.1:c.517C>T | XP_011538283.1:p.Arg173Cys | |
| XM_011539982.1:c.421C>T | XP_011538284.1:p.Arg141Cys | |
| XR_945789.1:n.1388C>T | ||
| XR_945790.1:n.1505C>T | ||
| XR_945791.1:n.1205-5711C>T | ||
| NM_000314.7:c.517C>T | NP_000305.3:p.Arg173Cys | |
| NM_001304717.5:c.1036C>T | NP_001291646.4:p.Arg346Cys | |
| NM_001304718.2:c.-75C>T | NP_001291647.1:n.-75C>T | |
| NM_000314.8:c.517C>T MANE Select | NP_000305.3:p.Arg173Cys |