Linked Data
ClinVar Variation Id:
7831
dbSNP Id:
rs606231170
COSMIC:
COSM1133053
ERepo:
CA000521/MONDO:0017623/003
PubMed:
PMID:9371490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952189T>A , CM000672.2:g.87952189T>A | GRCh38 |
| NC_000010.10:g.89711946T>A , CM000672.1:g.89711946T>A | GRCh37 |
| NC_000010.9:g.89701926T>A | NCBI36 |
| NG_007466.2:g.93751T>A , LRG_311:g.93751T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.564T>A | ENSP00000514759.2:p.Tyr188Ter | |
| ENST00000710265.1:c.564T>A | ENSP00000518161.1:p.Tyr188Ter | |
| ENST00000472832.3:c.564T>A | ENSP00000483066.2:p.Tyr188Ter | |
| ENST00000688158.2:n.1299T>A | ||
| ENST00000688922.2:c.*394T>A | ENSP00000508742.2:n.*394T>A | |
| ENST00000700021.1:c.519T>A | ENSP00000514757.1:p.Tyr173Ter | |
| ENST00000700022.1:c.493-5664T>A | ENSP00000514758.1:n.493-5664T>A | |
| ENST00000700023.1:n.1722T>A | ||
| ENST00000700024.1:n.1956T>A | ||
| ENST00000700025.1:n.1333T>A | ||
| ENST00000700029.1:c.398T>A | ||
| ENST00000706954.1:c.564T>A | ENSP00000516674.1:p.Tyr188Ter | |
| ENST00000706955.1:c.*599T>A | ENSP00000516675.1:n.*599T>A | |
| ENST00000686459.1:c.*150T>A | ENSP00000508909.1:n.*150T>A | |
| ENST00000688158.1:c.*675T>A | ENSP00000509254.1:n.*675T>A | |
| ENST00000688308.1:c.564T>A | ENSP00000508752.1:p.Tyr188Ter | |
| ENST00000688922.1:c.485T>A | ||
| ENST00000693560.1:c.1083T>A | ENSP00000509861.1:p.Tyr361Ter | |
| ENST00000371953.8:c.564T>A MANE Select | ENSP00000361021.3:p.Tyr188Ter | |
| ENST00000371953.7:c.564T>A | ENSP00000361021.3:p.Tyr188Ter | |
| NM_000314.5:c.564T>A | NP_000305.3:p.Tyr188Ter | |
| NM_000314.6:c.564T>A | NP_000305.3:p.Tyr188Ter | |
| NM_001304717.2:c.1083T>A | NP_001291646.2:p.Tyr361Ter | |
| NM_001304718.1:c.-28T>A | NP_001291647.1:n.-28T>A | |
| XM_006717926.2:c.519T>A | XP_006717989.1:p.Tyr173Ter | |
| XM_011539981.1:c.564T>A | XP_011538283.1:p.Tyr188Ter | |
| XM_011539982.1:c.468T>A | XP_011538284.1:p.Tyr156Ter | |
| XR_945791.1:n.1205-5664T>A | ||
| NM_000314.7:c.564T>A | NP_000305.3:p.Tyr188Ter | |
| NM_001304717.5:c.1083T>A | NP_001291646.4:p.Tyr361Ter | |
| NM_001304718.2:c.-28T>A | NP_001291647.1:n.-28T>A | |
| NM_000314.8:c.564T>A MANE Select | NP_000305.3:p.Tyr188Ter |