Linked Data
ClinVar Variation Id:
197662
dbSNP Id:
rs746152219
ExAC:
10:89692940 C / T
gnomAD v2:
10-89692940-C-T
gnomAD v4:
10-87933183-C-T
COSMIC:
COSM5122
ERepo:
CA000455/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933183C>T , CM000672.2:g.87933183C>T | GRCh38 |
| NC_000010.10:g.89692940C>T , CM000672.1:g.89692940C>T | GRCh37 |
| NC_000010.9:g.89682920C>T | NCBI36 |
| NG_007466.2:g.74745C>T , LRG_311:g.74745C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.424C>T | ENSP00000514759.2:p.Arg142Trp | |
| ENST00000710265.1:c.424C>T | ENSP00000518161.1:p.Arg142Trp | |
| ENST00000472832.3:c.424C>T | ENSP00000483066.2:p.Arg142Trp | |
| ENST00000688158.2:n.1159C>T | ||
| ENST00000688922.2:c.*254C>T | ENSP00000508742.2:n.*254C>T | |
| ENST00000700021.1:c.379C>T | ENSP00000514757.1:p.Arg127Trp | |
| ENST00000700022.1:c.424C>T | ENSP00000514758.1:p.Arg142Trp | |
| ENST00000700029.1:c.258C>T | ||
| ENST00000706954.1:c.424C>T | ENSP00000516674.1:p.Arg142Trp | |
| ENST00000706955.1:c.*459C>T | ENSP00000516675.1:n.*459C>T | |
| ENST00000686459.1:c.424C>T | ENSP00000508909.1:p.Arg142Trp | |
| ENST00000688158.1:c.*535C>T | ENSP00000509254.1:n.*535C>T | |
| ENST00000688308.1:c.424C>T | ENSP00000508752.1:p.Arg142Trp | |
| ENST00000688922.1:c.345C>T | ||
| ENST00000693560.1:c.943C>T | ENSP00000509861.1:p.Arg315Trp | |
| ENST00000371953.8:c.424C>T MANE Select | ENSP00000361021.3:p.Arg142Trp | |
| ENST00000371953.7:c.424C>T | ENSP00000361021.3:p.Arg142Trp | |
| ENST00000498703.1:n.250C>T | ||
| ENST00000610634.1:c.322C>T | ENSP00000477517.1:p.Arg108Trp | |
| NM_000314.5:c.424C>T | NP_000305.3:p.Arg142Trp | |
| NM_000314.6:c.424C>T | NP_000305.3:p.Arg142Trp | |
| NM_001304717.2:c.943C>T | NP_001291646.2:p.Arg315Trp | |
| NM_001304718.1:c.-327C>T | NP_001291647.1:n.-327C>T | |
| XM_006717926.2:c.379C>T | XP_006717989.1:p.Arg127Trp | |
| XM_011539981.1:c.424C>T | XP_011538283.1:p.Arg142Trp | |
| XM_011539982.1:c.328C>T | XP_011538284.1:p.Arg110Trp | |
| XR_945789.1:n.1136C>T | ||
| XR_945790.1:n.1136C>T | ||
| XR_945791.1:n.1136C>T | ||
| NM_000314.7:c.424C>T | NP_000305.3:p.Arg142Trp | |
| NM_001304717.5:c.943C>T | NP_001291646.4:p.Arg315Trp | |
| NM_001304718.2:c.-327C>T | NP_001291647.1:n.-327C>T | |
| NM_000314.8:c.424C>T MANE Select | NP_000305.3:p.Arg142Trp |