Linked Data
ClinVar Variation Id:
328070
ClinVar RCV Id:
RCV000346475
dbSNP Id:
rs1433099
gnomAD v2:
19-11242658-T-C
gnomAD v3:
19-11131982-T-C
gnomAD v4:
19-11131982-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11131982T>C , CM000681.2:g.11131982T>C | GRCh38 |
| NC_000019.9:g.11242658T>C , CM000681.1:g.11242658T>C | GRCh37 |
| NC_000019.8:g.11103658T>C | NCBI36 |
| NG_009060.1:g.47602T>C , LRG_274:g.47602T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.*666T>C (LDLR) | ENSP00000252444.6:n.*666T>C | |
| ENST00000559340.2:c.*1318T>C (LDLR) | ENSP00000453696.2:n.*1318T>C | |
| ENST00000560467.2:c.*666T>C (LDLR) | ENSP00000453513.2:n.*666T>C | |
| ENST00000558518.6:c.*666T>C (LDLR) MANE Select | ENSP00000454071.1:n.*666T>C | |
| ENST00000252444.9:c.3503T>C (LDLR) | ||
| ENST00000558518.5:c.*666T>C (LDLR) | ENSP00000454071.1:n.*666T>C | |
| ENST00000560628.1:n.109-1113T>C (LDLR) | ||
| ENST00000585567.5:c.540-375A>G (SPC24) | ENSP00000468818.1:n.540-375A>G | |
| NM_000527.4:c.*666T>C , LRG_274t1:c.*666T>C (LDLR) | NP_000518.1:n.*666T>C | |
| NM_001195798.1:c.*666T>C (LDLR) | NP_001182727.1:n.*666T>C | |
| NM_001195799.1:c.*666T>C (LDLR) | NP_001182728.1:n.*666T>C | |
| NM_001195800.1:c.*666T>C (LDLR) | NP_001182729.1:n.*666T>C | |
| NM_001195803.1:c.*666T>C (LDLR) | NP_001182732.1:n.*666T>C | |
| XM_011528010.1:c.*666T>C (LDLR) | XP_011526312.1:n.*666T>C | |
| XM_011528011.1:c.*666T>C (LDLR) | XP_011526313.1:n.*666T>C | |
| XM_011528010.2:c.*666T>C (LDLR) | XP_011526312.1:n.*666T>C | |
| XR_001753685.2:n.3583T>C (LDLR) | ||
| XR_001753686.2:n.3226T>C (LDLR) | ||
| NM_000527.5:c.*666T>C (LDLR) MANE Select | NP_000518.1:n.*666T>C | |
| NM_001195798.2:c.*666T>C (LDLR) | NP_001182727.1:n.*666T>C | |
| NM_001195799.2:c.*666T>C (LDLR) | NP_001182728.1:n.*666T>C | |
| NM_001195800.2:c.*666T>C (LDLR) | NP_001182729.1:n.*666T>C | |
| NM_001195803.2:c.*666T>C (LDLR) | NP_001182732.1:n.*666T>C |