Linked Data
ClinVar Variation Id:
580948
dbSNP Id:
rs1564837839
gnomAD v4:
10-87952155-A-G
COSMIC:
COSM33702
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952155A>G , CM000672.2:g.87952155A>G | GRCh38 |
| NC_000010.10:g.89711912A>G , CM000672.1:g.89711912A>G | GRCh37 |
| NC_000010.9:g.89701892A>G | NCBI36 |
| NG_007466.2:g.93717A>G , LRG_311:g.93717A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.530A>G | ENSP00000514759.2:p.Tyr177Cys | |
| ENST00000710265.1:c.530A>G | ENSP00000518161.1:p.Tyr177Cys | |
| ENST00000472832.3:c.530A>G | ENSP00000483066.2:p.Tyr177Cys | |
| ENST00000688158.2:n.1265A>G | ||
| ENST00000688922.2:c.*360A>G | ENSP00000508742.2:n.*360A>G | |
| ENST00000700021.1:c.485A>G | ENSP00000514757.1:p.Tyr162Cys | |
| ENST00000700022.1:c.493-5698A>G | ENSP00000514758.1:n.493-5698A>G | |
| ENST00000700023.1:n.1688A>G | ||
| ENST00000700024.1:n.1922A>G | ||
| ENST00000700025.1:n.1299A>G | ||
| ENST00000700029.1:c.364A>G | ||
| ENST00000706954.1:c.530A>G | ENSP00000516674.1:p.Tyr177Cys | |
| ENST00000706955.1:c.*565A>G | ENSP00000516675.1:n.*565A>G | |
| ENST00000686459.1:c.*116A>G | ENSP00000508909.1:n.*116A>G | |
| ENST00000688158.1:c.*641A>G | ENSP00000509254.1:n.*641A>G | |
| ENST00000688308.1:c.530A>G | ENSP00000508752.1:p.Tyr177Cys | |
| ENST00000688922.1:c.451A>G | ||
| ENST00000693560.1:c.1049A>G | ENSP00000509861.1:p.Tyr350Cys | |
| ENST00000371953.8:c.530A>G MANE Select | ENSP00000361021.3:p.Tyr177Cys | |
| ENST00000371953.7:c.530A>G | ENSP00000361021.3:p.Tyr177Cys | |
| NM_000314.5:c.530A>G | NP_000305.3:p.Tyr177Cys | |
| NM_000314.6:c.530A>G | NP_000305.3:p.Tyr177Cys | |
| NM_001304717.2:c.1049A>G | NP_001291646.2:p.Tyr350Cys | |
| NM_001304718.1:c.-62A>G | NP_001291647.1:n.-62A>G | |
| XM_006717926.2:c.485A>G | XP_006717989.1:p.Tyr162Cys | |
| XM_011539981.1:c.530A>G | XP_011538283.1:p.Tyr177Cys | |
| XM_011539982.1:c.434A>G | XP_011538284.1:p.Tyr145Cys | |
| XR_945789.1:n.1401A>G | ||
| XR_945790.1:n.1518A>G | ||
| XR_945791.1:n.1205-5698A>G | ||
| NM_000314.7:c.530A>G | NP_000305.3:p.Tyr177Cys | |
| NM_001304717.5:c.1049A>G | NP_001291646.4:p.Tyr350Cys | |
| NM_001304718.2:c.-62A>G | NP_001291647.1:n.-62A>G | |
| NM_000314.8:c.530A>G MANE Select | NP_000305.3:p.Tyr177Cys |