Linked Data
ClinVar Variation Id:
185713
dbSNP Id:
rs786202398
COSMIC:
COSM5253
ERepo:
CA000131/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87925518T>G , CM000672.2:g.87925518T>G | GRCh38 |
| NC_000010.10:g.89685275T>G , CM000672.1:g.89685275T>G | GRCh37 |
| NC_000010.9:g.89675255T>G | NCBI36 |
| NG_007466.2:g.67080T>G , LRG_311:g.67080T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.170T>G | ENSP00000514759.2:p.Leu57Trp | |
| ENST00000710265.1:c.170T>G | ENSP00000518161.1:p.Leu57Trp | |
| ENST00000472832.3:c.170T>G | ENSP00000483066.2:p.Leu57Trp | |
| ENST00000688158.2:n.905T>G | ||
| ENST00000688922.2:c.170T>G | ENSP00000508742.2:p.Leu57Trp | |
| ENST00000700021.1:c.165-5528T>G | ENSP00000514757.1:n.165-5528T>G | |
| ENST00000700022.1:c.170T>G | ENSP00000514758.1:p.Leu57Trp | |
| ENST00000700029.1:c.4T>G | ||
| ENST00000706954.1:c.170T>G | ENSP00000516674.1:p.Leu57Trp | |
| ENST00000706955.1:c.*205T>G | ENSP00000516675.1:n.*205T>G | |
| ENST00000686459.1:c.170T>G | ENSP00000508909.1:p.Leu57Trp | |
| ENST00000688158.1:c.*281T>G | ENSP00000509254.1:n.*281T>G | |
| ENST00000688308.1:c.170T>G | ENSP00000508752.1:p.Leu57Trp | |
| ENST00000688922.1:c.39T>G | ||
| ENST00000693560.1:c.689T>G | ENSP00000509861.1:p.Leu230Trp | |
| ENST00000371953.8:c.170T>G MANE Select | ENSP00000361021.3:p.Leu57Trp | |
| ENST00000371953.7:c.170T>G | ENSP00000361021.3:p.Leu57Trp | |
| ENST00000610634.1:c.68T>G | ENSP00000477517.1:p.Leu23Trp | |
| NM_000314.5:c.170T>G | NP_000305.3:p.Leu57Trp | |
| NM_000314.6:c.170T>G | NP_000305.3:p.Leu57Trp | |
| NM_001304717.2:c.689T>G | NP_001291646.2:p.Leu230Trp | |
| NM_001304718.1:c.-541-5528T>G | NP_001291647.1:n.-541-5528T>G | |
| XM_006717926.2:c.165-5528T>G | XP_006717989.1:n.165-5528T>G | |
| XM_011539981.1:c.170T>G | XP_011538283.1:p.Leu57Trp | |
| XM_011539982.1:c.74T>G | XP_011538284.1:p.Leu25Trp | |
| XR_945789.1:n.882T>G | ||
| XR_945790.1:n.882T>G | ||
| XR_945791.1:n.882T>G | ||
| NM_000314.7:c.170T>G | NP_000305.3:p.Leu57Trp | |
| NM_001304717.5:c.689T>G | NP_001291646.4:p.Leu230Trp | |
| NM_001304718.2:c.-541-5528T>G | NP_001291647.1:n.-541-5528T>G | |
| NM_000314.8:c.170T>G MANE Select | NP_000305.3:p.Leu57Trp |