Linked Data
ClinVar Variation Id:
7080
ClinVar RCV Id:
RCV000007496
dbSNP Id:
rs121909057
gnomAD v4:
5-146340095-T-C
PubMed:
PMID:18228599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340095T>C , CM000667.2:g.146340095T>C | GRCh38 |
| NC_000005.9:g.145719658T>C , CM000667.1:g.145719658T>C | GRCh37 |
| NC_000005.8:g.145699851T>C | NCBI36 |
| NG_011885.1:g.6072T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646991.2:c.668T>C MANE Select | ENSP00000495718.1:p.Leu223Pro | |
| ENST00000230732.4:c.668T>C | ENSP00000230732.4:p.Leu223Pro | |
| NM_002700.2:c.668T>C | NP_002691.1:p.Leu223Pro | |
| NM_002700.3:c.668T>C MANE Select | NP_002691.1:p.Leu223Pro |