Linked Data
ClinVar Variation Id:
161272
ClinVar RCV Id:
RCV000161949
RCV000211611
RCV000609054
RCV000771169
RCV002354338
RCV003952707
RCV002051665
dbSNP Id:
rs147509697
ExAC:
19:11200282 G / A
gnomAD v2:
19-11200282-G-A
gnomAD v3:
19-11089606-G-A
gnomAD v4:
19-11089606-G-A
ERepo:
CA023728/MONDO:0007750/013
PubMed:
PMID:12436241
PMID:15556094
PMID:15823276
PMID:16250003
PMID:17347910
PMID:19318025
PMID:20145306
PMID:21310417
PMID:21935675
PMID:22698793
PMID:22923420
PMID:23130880
PMID:23375686
PMID:24055113
PMID:24373485
PMID:24507775
PMID:24627126
PMID:25487149
PMID:25637381
PMID:25647241
PMID:26020417
PMID:26361156
PMID:26415676
PMID:27175606
PMID:27824480
PMID:28145427
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089606G>A , CM000681.2:g.11089606G>A | GRCh38 |
| NC_000019.9:g.11200282G>A , CM000681.1:g.11200282G>A | GRCh37 |
| NC_000019.8:g.11061282G>A | NCBI36 |
| NG_009060.1:g.5226G>A , LRG_274:g.5226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559340.2:c.58G>A (LDLR) | ENSP00000453696.2:p.Gly20Arg | |
| ENST00000560467.2:c.58G>A (LDLR) | ENSP00000453513.2:p.Gly20Arg | |
| ENST00000558518.6:c.58G>A (LDLR) MANE Select | ENSP00000454071.1:p.Gly20Arg | |
| ENST00000455727.6:c.58G>A (LDLR) | ENSP00000397829.2:p.Gly20Arg | |
| ENST00000535915.5:c.58G>A (LDLR) | ENSP00000440520.1:p.Gly20Arg | |
| ENST00000545707.5:c.58G>A (LDLR) | ENSP00000437639.1:p.Gly20Arg | |
| ENST00000557933.5:c.58G>A (LDLR) | ENSP00000453557.1:p.Gly20Arg | |
| ENST00000557958.1:n.144G>A (LDLR) | ||
| ENST00000558013.5:c.58G>A (LDLR) | ENSP00000453346.1:p.Gly20Arg | |
| ENST00000558518.5:c.58G>A (LDLR) | ENSP00000454071.1:p.Gly20Arg | |
| ENST00000560502.5:n.144G>A (LDLR) | ||
| NM_000527.4:c.58G>A , LRG_274t1:c.58G>A (LDLR) | NP_000518.1:p.Gly20Arg | |
| NM_001195798.1:c.58G>A (LDLR) | NP_001182727.1:p.Gly20Arg | |
| NM_001195799.1:c.58G>A (LDLR) | NP_001182728.1:p.Gly20Arg | |
| NM_001195800.1:c.58G>A (LDLR) | NP_001182729.1:p.Gly20Arg | |
| NM_001195803.1:c.58G>A (LDLR) | NP_001182732.1:p.Gly20Arg | |
| XM_011528010.1:c.58G>A (LDLR) | XP_011526312.1:p.Gly20Arg | |
| XM_011528011.1:c.58G>A (LDLR) | XP_011526313.1:p.Gly20Arg | |
| XR_244074.2:n.208G>A (LDLR) | ||
| XM_011528010.2:c.58G>A (LDLR) | XP_011526312.1:p.Gly20Arg | |
| XR_001753685.2:n.175G>A (LDLR) | ||
| XR_001753686.2:n.175G>A (LDLR) | ||
| NM_000527.5:c.58G>A (LDLR) MANE Select | NP_000518.1:p.Gly20Arg | |
| NM_001195798.2:c.58G>A (LDLR) | NP_001182727.1:p.Gly20Arg | |
| NM_001195799.2:c.58G>A (LDLR) | NP_001182728.1:p.Gly20Arg | |
| NM_001195800.2:c.58G>A (LDLR) | NP_001182729.1:p.Gly20Arg | |
| NM_001195803.2:c.58G>A (LDLR) | NP_001182732.1:p.Gly20Arg | |
| NR_163945.1:n.54C>T (LDLR-AS1) |