Linked Data
ClinVar Variation Id:
18284
ClinVar RCV Id:
RCV003151733
dbSNP Id:
rs121909524
PubMed:
PMID:11333380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431558T>G , CM000663.2:g.229431558T>G | GRCh38 |
| NC_000001.10:g.229567305T>G , CM000663.1:g.229567305T>G | GRCh37 |
| NC_000001.9:g.227633928T>G | NCBI36 |
| NG_006672.1:g.7539A>C , LRG_429:g.7539A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.997A>C | ENSP00000355644.4:p.Ile333Leu | |
| ENST00000684723.1:c.940A>C | ENSP00000508084.1:p.Ile314Leu | |
| ENST00000366683.3:c.706A>C | ENSP00000355644.3:p.Ile236Leu | |
| ENST00000366684.7:c.1075A>C MANE Select | ENSP00000355645.3:p.Ile359Leu | |
| NM_001100.3:c.1075A>C , LRG_429t1:c.1075A>C | NP_001091.1:p.Ile359Leu | |
| NM_001100.4:c.1075A>C MANE Select | NP_001091.1:p.Ile359Leu |