Linked Data
ClinVar Variation Id:
162499
dbSNP Id:
rs139617694
gnomAD v2:
19-11224210-G-A
gnomAD v3:
19-11113534-G-A
gnomAD v4:
19-11113534-G-A
PubMed:
PMID:7616128
PMID:9254862
PMID:10090473
PMID:10441197
PMID:10735632
PMID:11668640
PMID:11857755
PMID:12436241
PMID:15199436
PMID:19208450
PMID:22390909
PMID:25154303
PMID:25525159
PMID:25637381
PMID:26036859
PMID:27765764
ERepo:
CA023463/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113534G>A , CM000681.2:g.11113534G>A | GRCh38 |
| NC_000019.9:g.11224210G>A , CM000681.1:g.11224210G>A | GRCh37 |
| NC_000019.8:g.11085210G>A | NCBI36 |
| NG_009060.1:g.29154G>A , LRG_274:g.29154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1617-1G>A (LDLR) | ENSP00000252444.6:n.1617-1G>A | |
| ENST00000559340.2:c.1359-1G>A (LDLR) | ENSP00000453696.2:n.1359-1G>A | |
| ENST00000560467.2:c.1239-1G>A (LDLR) | ENSP00000453513.2:n.1239-1G>A | |
| ENST00000558518.6:c.1359-1G>A (LDLR) MANE Select | ENSP00000454071.1:n.1359-1G>A | |
| ENST00000252444.9:c.1613-1G>A (LDLR) | ||
| ENST00000455727.6:c.855-1G>A (LDLR) | ENSP00000397829.2:n.855-1G>A | |
| ENST00000535915.5:c.1236-1G>A (LDLR) | ENSP00000440520.1:n.1236-1G>A | |
| ENST00000545707.5:c.978-1G>A (LDLR) | ENSP00000437639.1:n.978-1G>A | |
| ENST00000557933.5:c.1359-1G>A (LDLR) | ENSP00000453557.1:n.1359-1G>A | |
| ENST00000558013.5:c.1359-1G>A (LDLR) | ENSP00000453346.1:n.1359-1G>A | |
| ENST00000558518.5:c.1359-1G>A (LDLR) | ENSP00000454071.1:n.1359-1G>A | |
| ENST00000559340.1:c.80-1G>A (LDLR) | ||
| ENST00000560467.1:c.839-1G>A (LDLR) | ||
| NM_000527.4:c.1359-1G>A , LRG_274t1:c.1359-1G>A (LDLR) | NP_000518.1:n.1359-1G>A | |
| NM_001195798.1:c.1359-1G>A (LDLR) | NP_001182727.1:n.1359-1G>A | |
| NM_001195799.1:c.1236-1G>A (LDLR) | NP_001182728.1:n.1236-1G>A | |
| NM_001195800.1:c.855-1G>A (LDLR) | NP_001182729.1:n.855-1G>A | |
| NM_001195803.1:c.978-1G>A (LDLR) | NP_001182732.1:n.978-1G>A | |
| NR_106946.1:n.61G>A (MIR6886) | ||
| XM_011528010.1:c.1359-1G>A (LDLR) | XP_011526312.1:n.1359-1G>A | |
| XM_011528011.1:c.978-1G>A (LDLR) | XP_011526313.1:n.978-1G>A | |
| XR_244074.2:n.1509-1G>A (LDLR) | ||
| XM_011528010.2:c.1359-1G>A (LDLR) | XP_011526312.1:n.1359-1G>A | |
| XR_001753685.2:n.1476-1G>A (LDLR) | ||
| XR_001753686.2:n.1476-1G>A (LDLR) | ||
| NM_000527.5:c.1359-1G>A (LDLR) MANE Select | NP_000518.1:n.1359-1G>A | |
| NM_001195798.2:c.1359-1G>A (LDLR) | NP_001182727.1:n.1359-1G>A | |
| NM_001195799.2:c.1236-1G>A (LDLR) | NP_001182728.1:n.1236-1G>A | |
| NM_001195800.2:c.855-1G>A (LDLR) | NP_001182729.1:n.855-1G>A | |
| NM_001195803.2:c.978-1G>A (LDLR) | NP_001182732.1:n.978-1G>A |