Linked Data
ClinVar Variation Id:
7079
ClinVar RCV Id:
RCV000007495
dbSNP Id:
rs121909056
PubMed:
PMID:18228599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340292C>T , CM000667.2:g.146340292C>T | GRCh38 |
| NC_000005.9:g.145719855C>T , CM000667.1:g.145719855C>T | GRCh37 |
| NC_000005.8:g.145700048C>T | NCBI36 |
| NG_011885.1:g.6269C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646991.2:c.865C>T MANE Select | ENSP00000495718.1:p.Leu289Phe | |
| ENST00000230732.4:c.865C>T | ENSP00000230732.4:p.Leu289Phe | |
| NM_002700.2:c.865C>T | NP_002691.1:p.Leu289Phe | |
| NM_002700.3:c.865C>T MANE Select | NP_002691.1:p.Leu289Phe |