Linked Data
ClinVar Variation Id:
18286
ClinVar RCV Id:
RCV000019948
dbSNP Id:
rs121909526
PubMed:
PMID:11333380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432596G>C , CM000663.2:g.229432596G>C | GRCh38 |
| NC_000001.10:g.229568343G>C , CM000663.1:g.229568343G>C | GRCh37 |
| NC_000001.9:g.227634966G>C | NCBI36 |
| NG_006672.1:g.6501C>G , LRG_429:g.6501C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.414C>G | ENSP00000355644.4:p.Ile138Met | |
| ENST00000684723.1:c.279C>G | ENSP00000508084.1:p.Ile93Met | |
| ENST00000366683.3:c.414C>G | ENSP00000355644.3:p.Ile138Met | |
| ENST00000366684.7:c.414C>G MANE Select | ENSP00000355645.3:p.Ile138Met | |
| NM_001100.3:c.414C>G , LRG_429t1:c.414C>G | NP_001091.1:p.Ile138Met | |
| NM_001100.4:c.414C>G MANE Select | NP_001091.1:p.Ile138Met |