Linked Data
ClinVar Variation Id:
343116
ClinVar RCV Id:
RCV000368151
dbSNP Id:
rs45463895
gnomAD v2:
3-128198980-A-T
gnomAD v3:
3-128480137-A-T
gnomAD v4:
3-128480137-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128480137A>T , CM000665.2:g.128480137A>T | GRCh38 |
| NC_000003.11:g.128198980A>T , CM000665.1:g.128198980A>T | GRCh37 |
| NC_000003.10:g.129681670A>T | NCBI36 |
| NG_029334.1:g.18051T>A , LRG_295:g.18051T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000487848.6:c.*882T>A MANE Plus Clinical | ENSP00000417074.1:n.*882T>A | |
| ENST00000696466.1:c.*882T>A | ENSP00000512647.1:n.*882T>A | |
| ENST00000696672.1:c.1300T>A | ENSP00000512796.1:n.1300T>A | |
| ENST00000341105.7:c.*882T>A MANE Select | ENSP00000345681.2:n.*882T>A | |
| ENST00000341105.6:c.*882T>A | ENSP00000345681.2:n.*882T>A | |
| NM_001145661.1:c.*882T>A , LRG_295t1:c.*882T>A | NP_001139133.1:n.*882T>A | |
| NM_001145662.1:c.*882T>A | NP_001139134.1:n.*882T>A | |
| NM_032638.4:c.*882T>A , LRG_295t2:c.*882T>A | NP_116027.2:n.*882T>A | |
| NM_001145661.2:c.*882T>A MANE Plus Clinical | NP_001139133.1:n.*882T>A | |
| NM_032638.5:c.*882T>A MANE Select | NP_116027.2:n.*882T>A |