Linked Data
ClinVar Variation Id:
328096
ClinVar RCV Id:
RCV000351249
dbSNP Id:
rs186461273
gnomAD v2:
19-11243332-C-A
gnomAD v3:
19-11132656-C-A
gnomAD v4:
19-11132656-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11132656C>A , CM000681.2:g.11132656C>A | GRCh38 |
| NC_000019.9:g.11243332C>A , CM000681.1:g.11243332C>A | GRCh37 |
| NC_000019.8:g.11104332C>A | NCBI36 |
| NG_009060.1:g.48276C>A , LRG_274:g.48276C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.*1340C>A (LDLR) | ENSP00000252444.6:n.*1340C>A | |
| ENST00000559340.2:c.*1992C>A (LDLR) | ENSP00000453696.2:n.*1992C>A | |
| ENST00000560467.2:c.*1340C>A (LDLR) | ENSP00000453513.2:n.*1340C>A | |
| ENST00000558518.6:c.*1340C>A (LDLR) MANE Select | ENSP00000454071.1:n.*1340C>A | |
| ENST00000252444.9:c.4177C>A (LDLR) | ||
| ENST00000560628.1:n.109-439C>A (LDLR) | ||
| ENST00000585567.5:c.540-1049G>T (SPC24) | ENSP00000468818.1:n.540-1049G>T | |
| NM_000527.4:c.*1340C>A , LRG_274t1:c.*1340C>A (LDLR) | NP_000518.1:n.*1340C>A | |
| NM_001195798.1:c.*1340C>A (LDLR) | NP_001182727.1:n.*1340C>A | |
| NM_001195799.1:c.*1340C>A (LDLR) | NP_001182728.1:n.*1340C>A | |
| NM_001195800.1:c.*1340C>A (LDLR) | NP_001182729.1:n.*1340C>A | |
| NM_001195803.1:c.*1340C>A (LDLR) | NP_001182732.1:n.*1340C>A | |
| XM_011528010.1:c.*1340C>A (LDLR) | XP_011526312.1:n.*1340C>A | |
| XM_011528011.1:c.*1340C>A (LDLR) | XP_011526313.1:n.*1340C>A | |
| XM_011528010.2:c.*1340C>A (LDLR) | XP_011526312.1:n.*1340C>A | |
| XR_001753685.2:n.4257C>A (LDLR) | ||
| XR_001753686.2:n.3900C>A (LDLR) | ||
| NM_000527.5:c.*1340C>A (LDLR) MANE Select | NP_000518.1:n.*1340C>A | |
| NM_001195798.2:c.*1340C>A (LDLR) | NP_001182727.1:n.*1340C>A | |
| NM_001195799.2:c.*1340C>A (LDLR) | NP_001182728.1:n.*1340C>A | |
| NM_001195800.2:c.*1340C>A (LDLR) | NP_001182729.1:n.*1340C>A | |
| NM_001195803.2:c.*1340C>A (LDLR) | NP_001182732.1:n.*1340C>A |