Linked Data
ClinVar Variation Id:
183726
ClinVar RCV Id:
RCV000162428
RCV000202582
RCV000212881
RCV000463307
RCV000587477
RCV000785388
RCV003462114
RCV003389317
dbSNP Id:
rs786201044
COSMIC:
COSM5096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933165T>C , CM000672.2:g.87933165T>C | GRCh38 |
| NC_000010.10:g.89692922T>C , CM000672.1:g.89692922T>C | GRCh37 |
| NC_000010.9:g.89682902T>C | NCBI36 |
| NG_007466.2:g.74727T>C , LRG_311:g.74727T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.406T>C | ENSP00000514759.2:p.Cys136Arg | |
| ENST00000710265.1:c.406T>C | ENSP00000518161.1:p.Cys136Arg | |
| ENST00000472832.3:c.406T>C | ENSP00000483066.2:p.Cys136Arg | |
| ENST00000688158.2:n.1141T>C | ||
| ENST00000688922.2:c.*236T>C | ENSP00000508742.2:n.*236T>C | |
| ENST00000700021.1:c.361T>C | ENSP00000514757.1:p.Cys121Arg | |
| ENST00000700022.1:c.406T>C | ENSP00000514758.1:p.Cys136Arg | |
| ENST00000700029.1:c.240T>C | ||
| ENST00000706954.1:c.406T>C | ENSP00000516674.1:p.Cys136Arg | |
| ENST00000706955.1:c.*441T>C | ENSP00000516675.1:n.*441T>C | |
| ENST00000686459.1:c.406T>C | ENSP00000508909.1:p.Cys136Arg | |
| ENST00000688158.1:c.*517T>C | ENSP00000509254.1:n.*517T>C | |
| ENST00000688308.1:c.406T>C | ENSP00000508752.1:p.Cys136Arg | |
| ENST00000688922.1:c.327T>C | ||
| ENST00000693560.1:c.925T>C | ENSP00000509861.1:p.Cys309Arg | |
| ENST00000371953.8:c.406T>C MANE Select | ENSP00000361021.3:p.Cys136Arg | |
| ENST00000371953.7:c.406T>C | ENSP00000361021.3:p.Cys136Arg | |
| ENST00000498703.1:n.232T>C | ||
| ENST00000610634.1:c.304T>C | ENSP00000477517.1:p.Cys102Arg | |
| NM_000314.5:c.406T>C | NP_000305.3:p.Cys136Arg | |
| NM_000314.6:c.406T>C | NP_000305.3:p.Cys136Arg | |
| NM_001304717.2:c.925T>C | NP_001291646.2:p.Cys309Arg | |
| NM_001304718.1:c.-345T>C | NP_001291647.1:n.-345T>C | |
| XM_006717926.2:c.361T>C | XP_006717989.1:p.Cys121Arg | |
| XM_011539981.1:c.406T>C | XP_011538283.1:p.Cys136Arg | |
| XM_011539982.1:c.310T>C | XP_011538284.1:p.Cys104Arg | |
| XR_945789.1:n.1118T>C | ||
| XR_945790.1:n.1118T>C | ||
| XR_945791.1:n.1118T>C | ||
| NM_000314.7:c.406T>C | NP_000305.3:p.Cys136Arg | |
| NM_001304717.5:c.925T>C | NP_001291646.4:p.Cys309Arg | |
| NM_001304718.2:c.-345T>C | NP_001291647.1:n.-345T>C | |
| NM_000314.8:c.406T>C MANE Select | NP_000305.3:p.Cys136Arg |