Linked Data
ClinVar Variation Id:
53074
ClinVar RCV Id:
RCV000576965
dbSNP Id:
rs397508119
PubMed:
PMID:12653681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570727T>C , CM000673.2:g.2570727T>C | GRCh38 |
| NC_000011.9:g.2591957T>C , CM000673.1:g.2591957T>C | GRCh37 |
| NC_000011.8:g.2548533T>C | NCBI36 |
| NG_008935.1:g.130737T>C , LRG_287:g.130737T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.316T>C | ENSP00000434560.2:p.Phe106Leu | |
| ENST00000646564.2:c.478-12708T>C | ENSP00000495806.2:n.478-12708T>C | |
| ENST00000155840.12:c.577T>C MANE Select | ENSP00000155840.2:p.Phe193Leu | |
| ENST00000335475.6:c.196T>C | ENSP00000334497.5:p.Phe66Leu | |
| ENST00000646564.1:c.124-12708T>C | ENSP00000495806.1:n.124-12708T>C | |
| ENST00000155840.9:c.577T>C | ENSP00000155840.2:p.Phe193Leu | |
| ENST00000335475.5:c.196T>C | ENSP00000334497.5:p.Phe66Leu | |
| ENST00000496887.6:c.316T>C | ENSP00000434560.1:p.Phe106Leu | |
| NM_000218.2:c.577T>C , LRG_287t1:c.577T>C | NP_000209.2:p.Phe193Leu | |
| NM_181798.1:c.196T>C , LRG_287t2:c.196T>C | NP_861463.1:p.Phe66Leu | |
| NM_000218.3:c.577T>C MANE Select | NP_000209.2:p.Phe193Leu |