Linked Data
ClinVar Variation Id:
250985
dbSNP Id:
rs879254392
gnomAD v2:
19-11200280-C-T
gnomAD v4:
19-11089604-C-T
PubMed:
PMID:22881376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089604C>T , CM000681.2:g.11089604C>T | GRCh38 |
| NC_000019.9:g.11200280C>T , CM000681.1:g.11200280C>T | GRCh37 |
| NC_000019.8:g.11061280C>T | NCBI36 |
| NG_009060.1:g.5224C>T , LRG_274:g.5224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559340.2:c.56C>T (LDLR) | ENSP00000453696.2:p.Ala19Val | |
| ENST00000560467.2:c.56C>T (LDLR) | ENSP00000453513.2:p.Ala19Val | |
| ENST00000558518.6:c.56C>T (LDLR) MANE Select | ENSP00000454071.1:p.Ala19Val | |
| ENST00000455727.6:c.56C>T (LDLR) | ENSP00000397829.2:p.Ala19Val | |
| ENST00000535915.5:c.56C>T (LDLR) | ENSP00000440520.1:p.Ala19Val | |
| ENST00000545707.5:c.56C>T (LDLR) | ENSP00000437639.1:p.Ala19Val | |
| ENST00000557933.5:c.56C>T (LDLR) | ENSP00000453557.1:p.Ala19Val | |
| ENST00000557958.1:n.142C>T (LDLR) | ||
| ENST00000558013.5:c.56C>T (LDLR) | ENSP00000453346.1:p.Ala19Val | |
| ENST00000558518.5:c.56C>T (LDLR) | ENSP00000454071.1:p.Ala19Val | |
| ENST00000560502.5:n.142C>T (LDLR) | ||
| NM_000527.4:c.56C>T , LRG_274t1:c.56C>T (LDLR) | NP_000518.1:p.Ala19Val | |
| NM_001195798.1:c.56C>T (LDLR) | NP_001182727.1:p.Ala19Val | |
| NM_001195799.1:c.56C>T (LDLR) | NP_001182728.1:p.Ala19Val | |
| NM_001195800.1:c.56C>T (LDLR) | NP_001182729.1:p.Ala19Val | |
| NM_001195803.1:c.56C>T (LDLR) | NP_001182732.1:p.Ala19Val | |
| XM_011528010.1:c.56C>T (LDLR) | XP_011526312.1:p.Ala19Val | |
| XM_011528011.1:c.56C>T (LDLR) | XP_011526313.1:p.Ala19Val | |
| XR_244074.2:n.206C>T (LDLR) | ||
| XM_011528010.2:c.56C>T (LDLR) | XP_011526312.1:p.Ala19Val | |
| XR_001753685.2:n.173C>T (LDLR) | ||
| XR_001753686.2:n.173C>T (LDLR) | ||
| NM_000527.5:c.56C>T (LDLR) MANE Select | NP_000518.1:p.Ala19Val | |
| NM_001195798.2:c.56C>T (LDLR) | NP_001182727.1:p.Ala19Val | |
| NM_001195799.2:c.56C>T (LDLR) | NP_001182728.1:p.Ala19Val | |
| NM_001195800.2:c.56C>T (LDLR) | NP_001182729.1:p.Ala19Val | |
| NM_001195803.2:c.56C>T (LDLR) | NP_001182732.1:p.Ala19Val | |
| NR_163945.1:n.56G>A (LDLR-AS1) |