Linked Data
ClinVar Variation Id:
142018
ClinVar RCV Id:
RCV000130803
RCV000418382
RCV000428635
RCV000438856
RCV000418980
RCV000427982
RCV000436686
RCV000437255
RCV000441753
RCV000421218
RCV000426378
RCV000429247
RCV000435997
RCV000443617
RCV000532163
dbSNP Id:
rs121909229
COSMIC:
COSM5277
ERepo:
CA000439/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933148G>C , CM000672.2:g.87933148G>C | GRCh38 |
| NC_000010.10:g.89692905G>C , CM000672.1:g.89692905G>C | GRCh37 |
| NC_000010.9:g.89682885G>C | NCBI36 |
| NG_007466.2:g.74710G>C , LRG_311:g.74710G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.389G>C | ENSP00000514759.2:p.Arg130Pro | |
| ENST00000710265.1:c.389G>C | ENSP00000518161.1:p.Arg130Pro | |
| ENST00000472832.3:c.389G>C | ENSP00000483066.2:p.Arg130Pro | |
| ENST00000688158.2:n.1124G>C | ||
| ENST00000688922.2:c.*219G>C | ENSP00000508742.2:n.*219G>C | |
| ENST00000700021.1:c.344G>C | ENSP00000514757.1:p.Arg115Pro | |
| ENST00000700022.1:c.389G>C | ENSP00000514758.1:p.Arg130Pro | |
| ENST00000700029.1:c.223G>C | ||
| ENST00000706954.1:c.389G>C | ENSP00000516674.1:p.Arg130Pro | |
| ENST00000706955.1:c.*424G>C | ENSP00000516675.1:n.*424G>C | |
| ENST00000686459.1:c.389G>C | ENSP00000508909.1:p.Arg130Pro | |
| ENST00000688158.1:c.*500G>C | ENSP00000509254.1:n.*500G>C | |
| ENST00000688308.1:c.389G>C | ENSP00000508752.1:p.Arg130Pro | |
| ENST00000688922.1:c.310G>C | ||
| ENST00000693560.1:c.908G>C | ENSP00000509861.1:p.Arg303Pro | |
| ENST00000371953.8:c.389G>C MANE Select | ENSP00000361021.3:p.Arg130Pro | |
| ENST00000371953.7:c.389G>C | ENSP00000361021.3:p.Arg130Pro | |
| ENST00000498703.1:n.215G>C | ||
| ENST00000610634.1:c.287G>C | ENSP00000477517.1:p.Arg96Pro | |
| NM_000314.5:c.389G>C | NP_000305.3:p.Arg130Pro | |
| NM_000314.6:c.389G>C | NP_000305.3:p.Arg130Pro | |
| NM_001304717.2:c.908G>C | NP_001291646.2:p.Arg303Pro | |
| NM_001304718.1:c.-362G>C | NP_001291647.1:n.-362G>C | |
| XM_006717926.2:c.344G>C | XP_006717989.1:p.Arg115Pro | |
| XM_011539981.1:c.389G>C | XP_011538283.1:p.Arg130Pro | |
| XM_011539982.1:c.293G>C | XP_011538284.1:p.Arg98Pro | |
| XR_945789.1:n.1101G>C | ||
| XR_945790.1:n.1101G>C | ||
| XR_945791.1:n.1101G>C | ||
| NM_000314.7:c.389G>C | NP_000305.3:p.Arg130Pro | |
| NM_001304717.5:c.908G>C | NP_001291646.4:p.Arg303Pro | |
| NM_001304718.2:c.-362G>C | NP_001291647.1:n.-362G>C | |
| NM_000314.8:c.389G>C MANE Select | NP_000305.3:p.Arg130Pro |