Linked Data
ClinVar Variation Id:
250954
ClinVar RCV Id:
RCV000237183
dbSNP Id:
rs879254374
ERepo:
CA10584708/MONDO:0007750/013
PubMed:
PMID:21538688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089413C>G , CM000681.2:g.11089413C>G | GRCh38 |
| NC_000019.9:g.11200089C>G , CM000681.1:g.11200089C>G | GRCh37 |
| NC_000019.8:g.11061089C>G | NCBI36 |
| NG_009060.1:g.5033C>G , LRG_274:g.5033C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558518.5:c.-136C>G (LDLR) | ENSP00000454071.1:n.-136C>G | |
| NM_000527.4:c.-136C>G , LRG_274t1:c.-136C>G (LDLR) | NP_000518.1:n.-136C>G | |
| NM_001195798.1:c.-136C>G (LDLR) | NP_001182727.1:n.-136C>G | |
| NM_001195799.1:c.-136C>G (LDLR) | NP_001182728.1:n.-136C>G | |
| NM_001195800.1:c.-136C>G (LDLR) | NP_001182729.1:n.-136C>G | |
| NM_001195803.1:c.-136C>G (LDLR) | NP_001182732.1:n.-136C>G | |
| XM_011528010.1:c.-136C>G (LDLR) | XP_011526312.1:n.-136C>G | |
| XM_011528011.1:c.-136C>G (LDLR) | XP_011526313.1:n.-136C>G | |
| XR_244074.2:n.15C>G (LDLR) | ||
| NR_163945.1:n.247G>C (LDLR-AS1) |