Linked Data
ClinVar Variation Id:
17063
ClinVar RCV Id:
RCV000018592
dbSNP Id:
rs121909586
PubMed:
PMID:18796626
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697673G>C , CM000681.2:g.6697673G>C | GRCh38 |
| NC_000019.9:g.6697684G>C , CM000681.1:g.6697684G>C | GRCh37 |
| NC_000019.8:g.6648684G>C | NCBI36 |
| NG_009557.1:g.27979C>G , LRG_27:g.27979C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.910C>G | ||
| ENST00000695652.1:c.2439C>G | ENSP00000512083.1:p.Tyr813Ter | |
| ENST00000695653.1:c.471C>G | ENSP00000512084.1:p.Tyr157Ter | |
| ENST00000695654.1:c.1686C>G | ENSP00000512085.1:p.Tyr562Ter | |
| ENST00000695655.1:c.1503C>G | ENSP00000512086.1:n.1503C>G | |
| ENST00000695692.1:n.1926C>G | ||
| ENST00000245907.11:c.2562C>G MANE Select | ENSP00000245907.4:p.Tyr854Ter | |
| ENST00000245907.10:c.2562C>G | ENSP00000245907.4:p.Tyr854Ter | |
| ENST00000594005.1:n.43C>G | ||
| ENST00000602053.1:n.610C>G | ||
| NM_000064.3:c.2562C>G | NP_000055.2:p.Tyr854Ter | |
| NM_000064.4:c.2562C>G MANE Select | NP_000055.2:p.Tyr854Ter |