Linked Data
ClinVar Variation Id:
1163619
ClinVar RCV Id:
RCV001508837
dbSNP Id:
rs2147186108
gnomAD v4:
19-11089433-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089433T>C , CM000681.2:g.11089433T>C | GRCh38 |
| NC_000019.9:g.11200109T>C , CM000681.1:g.11200109T>C | GRCh37 |
| NC_000019.8:g.11061109T>C | NCBI36 |
| NG_009060.1:g.5053T>C , LRG_274:g.5053T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559340.2:c.-116T>C (LDLR) | ENSP00000453696.2:n.-116T>C | |
| ENST00000558518.5:c.-116T>C (LDLR) | ENSP00000454071.1:n.-116T>C | |
| NM_000527.4:c.-116T>C , LRG_274t1:c.-116T>C (LDLR) | NP_000518.1:n.-116T>C | |
| NM_001195798.1:c.-116T>C (LDLR) | NP_001182727.1:n.-116T>C | |
| NM_001195799.1:c.-116T>C (LDLR) | NP_001182728.1:n.-116T>C | |
| NM_001195800.1:c.-116T>C (LDLR) | NP_001182729.1:n.-116T>C | |
| NM_001195803.1:c.-116T>C (LDLR) | NP_001182732.1:n.-116T>C | |
| XM_011528010.1:c.-116T>C (LDLR) | XP_011526312.1:n.-116T>C | |
| XM_011528011.1:c.-116T>C (LDLR) | XP_011526313.1:n.-116T>C | |
| XR_244074.2:n.35T>C (LDLR) | ||
| XM_011528010.2:c.-116T>C (LDLR) | XP_011526312.1:n.-116T>C | |
| XR_001753685.2:n.2T>C (LDLR) | ||
| XR_001753686.2:n.2T>C (LDLR) | ||
| NR_163945.1:n.227A>G (LDLR-AS1) |