Linked Data
ClinVar Variation Id:
3070314
ClinVar RCV Id:
RCV004011832
dbSNP Id:
rs1322549744
gnomAD v3:
19-11089426-C-T
gnomAD v4:
19-11089426-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089426C>T , CM000681.2:g.11089426C>T | GRCh38 |
| NC_000019.9:g.11200102C>T , CM000681.1:g.11200102C>T | GRCh37 |
| NC_000019.8:g.11061102C>T | NCBI36 |
| NG_009060.1:g.5046C>T , LRG_274:g.5046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559340.2:c.-123C>T (LDLR) | ENSP00000453696.2:n.-123C>T | |
| ENST00000558518.5:c.-123C>T (LDLR) | ENSP00000454071.1:n.-123C>T | |
| NM_000527.4:c.-123C>T , LRG_274t1:c.-123C>T (LDLR) | NP_000518.1:n.-123C>T | |
| NM_001195798.1:c.-123C>T (LDLR) | NP_001182727.1:n.-123C>T | |
| NM_001195799.1:c.-123C>T (LDLR) | NP_001182728.1:n.-123C>T | |
| NM_001195800.1:c.-123C>T (LDLR) | NP_001182729.1:n.-123C>T | |
| NM_001195803.1:c.-123C>T (LDLR) | NP_001182732.1:n.-123C>T | |
| XM_011528010.1:c.-123C>T (LDLR) | XP_011526312.1:n.-123C>T | |
| XM_011528011.1:c.-123C>T (LDLR) | XP_011526313.1:n.-123C>T | |
| XR_244074.2:n.28C>T (LDLR) | ||
| NR_163945.1:n.234G>A (LDLR-AS1) |