Linked Data
ClinVar Variation Id:
927138
ClinVar RCV Id:
RCV001190223
dbSNP Id:
rs1357531646
gnomAD v2:
19-11200123-A-G
gnomAD v3:
19-11089447-A-G
gnomAD v4:
19-11089447-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089447A>G , CM000681.2:g.11089447A>G | GRCh38 |
| NC_000019.9:g.11200123A>G , CM000681.1:g.11200123A>G | GRCh37 |
| NC_000019.8:g.11061123A>G | NCBI36 |
| NG_009060.1:g.5067A>G , LRG_274:g.5067A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559340.2:c.-102A>G (LDLR) | ENSP00000453696.2:n.-102A>G | |
| ENST00000558518.5:c.-102A>G (LDLR) | ENSP00000454071.1:n.-102A>G | |
| NM_000527.4:c.-102A>G , LRG_274t1:c.-102A>G (LDLR) | NP_000518.1:n.-102A>G | |
| NM_001195798.1:c.-102A>G (LDLR) | NP_001182727.1:n.-102A>G | |
| NM_001195799.1:c.-102A>G (LDLR) | NP_001182728.1:n.-102A>G | |
| NM_001195800.1:c.-102A>G (LDLR) | NP_001182729.1:n.-102A>G | |
| NM_001195803.1:c.-102A>G (LDLR) | NP_001182732.1:n.-102A>G | |
| XM_011528010.1:c.-102A>G (LDLR) | XP_011526312.1:n.-102A>G | |
| XM_011528011.1:c.-102A>G (LDLR) | XP_011526313.1:n.-102A>G | |
| XR_244074.2:n.49A>G (LDLR) | ||
| XM_011528010.2:c.-102A>G (LDLR) | XP_011526312.1:n.-102A>G | |
| XR_001753685.2:n.16A>G (LDLR) | ||
| XR_001753686.2:n.16A>G (LDLR) | ||
| NR_163945.1:n.213T>C (LDLR-AS1) |