Linked Data
ClinVar Variation Id:
304846
dbSNP Id:
rs144350829
ExAC:
11:46880732 A / G
gnomAD v2:
11-46880732-A-G
gnomAD v3:
11-46859181-A-G
gnomAD v4:
11-46859181-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46859181A>G , CM000673.2:g.46859181A>G | GRCh38 |
| NC_000011.9:g.46880732A>G , CM000673.1:g.46880732A>G | GRCh37 |
| NC_000011.8:g.46837308A>G | NCBI36 |
| NG_021394.1:g.64442T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.5520T>C (LRP4) MANE Select | ENSP00000367888.1:p.His1840= | |
| ENST00000378623.5:c.5520T>C (LRP4) | ENSP00000367888.1:p.His1840= | |
| ENST00000529604.1:n.463T>C (LRP4) | ||
| NM_002334.3:c.5520T>C (LRP4) | NP_002325.2:p.His1840= | |
| NR_038909.1:n.197+12464A>G (LRP4-AS1) | ||
| XM_011520102.1:c.5733T>C (LRP4) | XP_011518404.1:p.His1911= | |
| XM_011520103.1:c.4716T>C (LRP4) | XP_011518405.1:p.His1572= | |
| XM_011520104.1:c.3285T>C (LRP4) | XP_011518406.1:p.His1095= | |
| XM_011520103.2:c.4716T>C (LRP4) | XP_011518405.1:p.His1572= | |
| XM_011520104.2:c.3285T>C (LRP4) | XP_011518406.1:p.His1095= | |
| NM_002334.4:c.5520T>C (LRP4) MANE Select | NP_002325.2:p.His1840= |