Linked Data
ClinVar Variation Id:
3647
ClinVar RCV Id:
RCV000003832
dbSNP Id:
rs121434387
PubMed:
PMID:17220172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69331067G>C , CM000678.2:g.69331067G>C | GRCh38 |
| NC_000016.9:g.69364970G>C , CM000678.1:g.69364970G>C | GRCh37 |
| NC_000016.8:g.67922471G>C | NCBI36 |
| NG_009013.1:g.13557C>G | |
| NG_033043.1:g.4529C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306875.10:c.1611C>G MANE Select | ENSP00000305459.6:p.Tyr537Ter | |
| ENST00000306875.8:c.1611C>G | ENSP00000305459.4:p.Tyr537Ter | |
| ENST00000562595.5:c.549+4259C>G | ||
| ENST00000562949.1:c.352-1888C>G | ENSP00000457718.1:n.352-1888C>G | |
| NM_032382.4:c.1611C>G | NP_115758.3:p.Tyr537Ter | |
| NM_032382.5:c.1611C>G MANE Select | NP_115758.3:p.Tyr537Ter | |
| NM_001379261.1:c.1752C>G | NP_001366190.1:p.Tyr584Ter | |
| NM_001379262.1:c.1611C>G | NP_001366191.1:p.Tyr537Ter | |
| NM_001379263.1:c.1650C>G | NP_001366192.1:p.Tyr550Ter | |
| NM_001379264.1:c.1611C>G | NP_001366193.1:p.Tyr537Ter | |
| NM_001379265.1:c.1582+1647C>G | NP_001366194.1:n.1582+1647C>G | |
| NM_001379266.1:c.1414-1888C>G | NP_001366195.1:n.1414-1888C>G |