Linked Data
ClinVar Variation Id:
372871
ClinVar RCV Id:
RCV000413972
dbSNP Id:
rs1057518038
COSMIC:
COSM4799543
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.147940643A>G , CM000685.2:g.147940643A>G | GRCh38 |
| NC_000023.10:g.147022162A>G , CM000685.1:g.147022162A>G | GRCh37 |
| NC_000023.9:g.146829854A>G | NCBI36 |
| NG_007529.1:g.33654A>G | |
| NG_007529.2:g.33653A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475038.3:c.*1012A>G | ENSP00000480450.2:n.*1012A>G | |
| ENST00000492846.2:n.1293A>G | ||
| ENST00000495717.6:c.1193A>G | ENSP00000481474.2:p.Tyr398Cys | |
| ENST00000616382.5:c.1193A>G | ENSP00000481058.2:p.Tyr398Cys | |
| ENST00000621453.5:c.1193A>G | ENSP00000479528.2:p.Tyr398Cys | |
| ENST00000621987.5:c.1333A>G | ENSP00000477839.1:n.1333A>G | |
| ENST00000685491.1:c.1193A>G | ENSP00000509963.1:p.Tyr398Cys | |
| ENST00000686086.1:c.1121A>G | ENSP00000510759.1:p.Tyr374Cys | |
| ENST00000687593.1:c.1193A>G | ENSP00000509270.1:p.Tyr398Cys | |
| ENST00000689517.1:c.776A>G | ENSP00000510686.1:p.Tyr259Cys | |
| ENST00000689570.1:n.1293A>G | ||
| ENST00000690137.1:c.1256A>G | ENSP00000509813.1:p.Tyr419Cys | |
| ENST00000690216.1:c.1256A>G | ENSP00000510631.1:p.Tyr419Cys | |
| ENST00000691111.1:c.1193A>G | ENSP00000509552.1:p.Tyr398Cys | |
| ENST00000691214.1:c.1193A>G | ENSP00000510362.1:p.Tyr398Cys | |
| ENST00000691793.1:n.1293A>G | ||
| ENST00000692091.1:c.*949A>G | ENSP00000509221.1:n.*949A>G | |
| ENST00000692108.1:c.938A>G | ENSP00000508963.1:p.Tyr313Cys | |
| ENST00000693079.1:n.1751A>G | ||
| ENST00000693452.1:c.*949A>G | ENSP00000510026.1:n.*949A>G | |
| ENST00000693512.1:c.990+4030A>G | ENSP00000509589.1:n.990+4030A>G | |
| ENST00000370475.9:c.1256A>G MANE Select | ENSP00000359506.5:p.Tyr419Cys | |
| ENST00000218200.12:c.1193A>G | ENSP00000218200.8:p.Tyr398Cys | |
| ENST00000370470.5:c.1256A>G | ENSP00000359501.1:p.Tyr419Cys | |
| ENST00000370471.7:c.1256A>G | ENSP00000359502.3:p.Tyr419Cys | |
| ENST00000370475.8:c.1256A>G | ENSP00000359506.4:p.Tyr419Cys | |
| ENST00000370477.5:c.1193A>G | ENSP00000359508.1:p.Tyr398Cys | |
| ENST00000439526.6:c.1187A>G | ENSP00000395923.2:p.Tyr396Cys | |
| ENST00000440235.6:c.1193A>G | ENSP00000413764.3:p.Tyr398Cys | |
| ENST00000492846.1:n.63A>G | ||
| ENST00000611273.1:n.487A>G | ||
| ENST00000616382.4:c.1193A>G | ENSP00000481058.1:p.Tyr398Cys | |
| ENST00000620828.4:n.1912A>G | ||
| ENST00000621453.4:c.1058A>G | ENSP00000479528.1:p.Tyr353Cys | |
| NM_001185075.1:c.1256A>G | NP_001172004.1:p.Tyr419Cys | |
| NM_001185076.1:c.1193A>G | NP_001172005.1:p.Tyr398Cys | |
| NM_001185081.1:c.1193A>G | NP_001172010.1:p.Tyr398Cys | |
| NM_001185082.1:c.1193A>G | NP_001172011.1:p.Tyr398Cys | |
| NM_002024.5:c.1256A>G | NP_002015.1:p.Tyr419Cys | |
| NR_033699.1:n.1485A>G | ||
| NR_033700.1:n.1422A>G | ||
| NM_001185081.2:c.1193A>G | NP_001172010.1:p.Tyr398Cys | |
| NM_001185082.2:c.1193A>G | NP_001172011.1:p.Tyr398Cys | |
| NM_002024.6:c.1256A>G MANE Select | NP_002015.1:p.Tyr419Cys | |
| NR_033699.2:n.1517A>G | ||
| NR_033700.2:n.1454A>G | ||
| NM_001185075.2:c.1256A>G | NP_001172004.1:p.Tyr419Cys | |
| NM_001185076.2:c.1193A>G | NP_001172005.1:p.Tyr398Cys |