Linked Data
ClinVar Variation Id:
404168
ClinVar RCV Id:
RCV000656112
RCV000475421
RCV001022838
RCV001092596
RCV001258059
RCV003492047
RCV003168731
RCV003470396
RCV003326136
dbSNP Id:
rs1060500126
gnomAD v4:
10-87933223-A-G
COSMIC:
COSM5144
ERepo:
CA16613246/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933223A>G , CM000672.2:g.87933223A>G | GRCh38 |
| NC_000010.10:g.89692980A>G , CM000672.1:g.89692980A>G | GRCh37 |
| NC_000010.9:g.89682960A>G | NCBI36 |
| NG_007466.2:g.74785A>G , LRG_311:g.74785A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.464A>G | ENSP00000514759.2:p.Tyr155Cys | |
| ENST00000710265.1:c.464A>G | ENSP00000518161.1:p.Tyr155Cys | |
| ENST00000472832.3:c.464A>G | ENSP00000483066.2:p.Tyr155Cys | |
| ENST00000688158.2:n.1199A>G | ||
| ENST00000688922.2:c.*294A>G | ENSP00000508742.2:n.*294A>G | |
| ENST00000700021.1:c.419A>G | ENSP00000514757.1:p.Tyr140Cys | |
| ENST00000700022.1:c.464A>G | ENSP00000514758.1:p.Tyr155Cys | |
| ENST00000700029.1:c.298A>G | ||
| ENST00000706954.1:c.464A>G | ENSP00000516674.1:p.Tyr155Cys | |
| ENST00000706955.1:c.*499A>G | ENSP00000516675.1:n.*499A>G | |
| ENST00000686459.1:c.464A>G | ENSP00000508909.1:p.Tyr155Cys | |
| ENST00000688158.1:c.*575A>G | ENSP00000509254.1:n.*575A>G | |
| ENST00000688308.1:c.464A>G | ENSP00000508752.1:p.Tyr155Cys | |
| ENST00000688922.1:c.385A>G | ||
| ENST00000693560.1:c.983A>G | ENSP00000509861.1:p.Tyr328Cys | |
| ENST00000371953.8:c.464A>G MANE Select | ENSP00000361021.3:p.Tyr155Cys | |
| ENST00000371953.7:c.464A>G | ENSP00000361021.3:p.Tyr155Cys | |
| ENST00000498703.1:n.290A>G | ||
| ENST00000610634.1:c.362A>G | ENSP00000477517.1:p.Tyr121Cys | |
| NM_000314.5:c.464A>G | NP_000305.3:p.Tyr155Cys | |
| NM_000314.6:c.464A>G | NP_000305.3:p.Tyr155Cys | |
| NM_001304717.2:c.983A>G | NP_001291646.2:p.Tyr328Cys | |
| NM_001304718.1:c.-287A>G | NP_001291647.1:n.-287A>G | |
| XM_006717926.2:c.419A>G | XP_006717989.1:p.Tyr140Cys | |
| XM_011539981.1:c.464A>G | XP_011538283.1:p.Tyr155Cys | |
| XM_011539982.1:c.368A>G | XP_011538284.1:p.Tyr123Cys | |
| XR_945789.1:n.1176A>G | ||
| XR_945790.1:n.1176A>G | ||
| XR_945791.1:n.1176A>G | ||
| NM_000314.7:c.464A>G | NP_000305.3:p.Tyr155Cys | |
| NM_001304717.5:c.983A>G | NP_001291646.4:p.Tyr328Cys | |
| NM_001304718.2:c.-287A>G | NP_001291647.1:n.-287A>G | |
| NM_000314.8:c.464A>G MANE Select | NP_000305.3:p.Tyr155Cys |