Linked Data
ClinVar Variation Id:
226031
ClinVar RCV Id:
RCV000211517
dbSNP Id:
rs878854404
PubMed:
PMID:27120771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54812204C>G , CM000685.2:g.54812204C>G | GRCh38 |
| NC_000023.10:g.54838637C>G , CM000685.1:g.54838637C>G | GRCh37 |
| NC_000023.9:g.54855362C>G | NCBI36 |
| NG_012844.1:g.9467C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375068.6:c.1038C>G MANE Select | ENSP00000364209.1:p.Tyr346Ter | |
| ENST00000218439.8:c.1038C>G | ENSP00000218439.4:p.Tyr346Ter | |
| ENST00000347546.8:c.984C>G | ENSP00000336962.4:p.Tyr328Ter | |
| ENST00000375053.6:c.1038C>G | ENSP00000364193.2:p.Tyr346Ter | |
| ENST00000375058.5:c.1038C>G | ENSP00000364198.1:p.Tyr346Ter | |
| ENST00000375060.5:c.783C>G | ENSP00000364200.1:p.Tyr261Ter | |
| ENST00000375068.5:c.1038C>G | ENSP00000364209.1:p.Tyr346Ter | |
| ENST00000396224.1:c.1038C>G | ENSP00000379526.1:p.Tyr346Ter | |
| ENST00000487463.1:n.32C>G | ||
| ENST00000487482.5:n.170C>G | ||
| ENST00000627068.2:c.783C>G | ENSP00000486563.1:p.Tyr261Ter | |
| NM_014599.5:c.1038C>G | NP_055414.2:p.Tyr346Ter | |
| NM_177433.2:c.1038C>G | NP_803182.1:p.Tyr346Ter | |
| NM_201222.2:c.1038C>G | NP_957516.1:p.Tyr346Ter | |
| NM_177433.3:c.1038C>G MANE Select | NP_803182.1:p.Tyr346Ter | |
| NM_014599.6:c.1038C>G | NP_055414.2:p.Tyr346Ter | |
| NM_201222.3:c.1038C>G | NP_957516.1:p.Tyr346Ter |