Linked Data
ClinVar Variation Id:
189406
dbSNP Id:
rs786204859
COSMIC:
COSM12734
ERepo:
CA000451/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933166G>A , CM000672.2:g.87933166G>A | GRCh38 |
| NC_000010.10:g.89692923G>A , CM000672.1:g.89692923G>A | GRCh37 |
| NC_000010.9:g.89682903G>A | NCBI36 |
| NG_007466.2:g.74728G>A , LRG_311:g.74728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.407G>A | ENSP00000514759.2:p.Cys136Tyr | |
| ENST00000710265.1:c.407G>A | ENSP00000518161.1:p.Cys136Tyr | |
| ENST00000472832.3:c.407G>A | ENSP00000483066.2:p.Cys136Tyr | |
| ENST00000688158.2:n.1142G>A | ||
| ENST00000688922.2:c.*237G>A | ENSP00000508742.2:n.*237G>A | |
| ENST00000700021.1:c.362G>A | ENSP00000514757.1:p.Cys121Tyr | |
| ENST00000700022.1:c.407G>A | ENSP00000514758.1:p.Cys136Tyr | |
| ENST00000700029.1:c.241G>A | ||
| ENST00000706954.1:c.407G>A | ENSP00000516674.1:p.Cys136Tyr | |
| ENST00000706955.1:c.*442G>A | ENSP00000516675.1:n.*442G>A | |
| ENST00000686459.1:c.407G>A | ENSP00000508909.1:p.Cys136Tyr | |
| ENST00000688158.1:c.*518G>A | ENSP00000509254.1:n.*518G>A | |
| ENST00000688308.1:c.407G>A | ENSP00000508752.1:p.Cys136Tyr | |
| ENST00000688922.1:c.328G>A | ||
| ENST00000693560.1:c.926G>A | ENSP00000509861.1:p.Cys309Tyr | |
| ENST00000371953.8:c.407G>A MANE Select | ENSP00000361021.3:p.Cys136Tyr | |
| ENST00000371953.7:c.407G>A | ENSP00000361021.3:p.Cys136Tyr | |
| ENST00000498703.1:n.233G>A | ||
| ENST00000610634.1:c.305G>A | ENSP00000477517.1:p.Cys102Tyr | |
| NM_000314.5:c.407G>A | NP_000305.3:p.Cys136Tyr | |
| NM_000314.6:c.407G>A | NP_000305.3:p.Cys136Tyr | |
| NM_001304717.2:c.926G>A | NP_001291646.2:p.Cys309Tyr | |
| NM_001304718.1:c.-344G>A | NP_001291647.1:n.-344G>A | |
| XM_006717926.2:c.362G>A | XP_006717989.1:p.Cys121Tyr | |
| XM_011539981.1:c.407G>A | XP_011538283.1:p.Cys136Tyr | |
| XM_011539982.1:c.311G>A | XP_011538284.1:p.Cys104Tyr | |
| XR_945789.1:n.1119G>A | ||
| XR_945790.1:n.1119G>A | ||
| XR_945791.1:n.1119G>A | ||
| NM_000314.7:c.407G>A | NP_000305.3:p.Cys136Tyr | |
| NM_001304717.5:c.926G>A | NP_001291646.4:p.Cys309Tyr | |
| NM_001304718.2:c.-344G>A | NP_001291647.1:n.-344G>A | |
| NM_000314.8:c.407G>A MANE Select | NP_000305.3:p.Cys136Tyr |