Linked Data
ClinVar Variation Id:
304852
dbSNP Id:
rs150734530
ExAC:
11:46890179 G / A
gnomAD v2:
11-46890179-G-A
gnomAD v3:
11-46868628-G-A
gnomAD v4:
11-46868628-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46868628G>A , CM000673.2:g.46868628G>A | GRCh38 |
| NC_000011.9:g.46890179G>A , CM000673.1:g.46890179G>A | GRCh37 |
| NC_000011.8:g.46846755G>A | NCBI36 |
| NG_021394.1:g.54995C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.4923C>T (LRP4) MANE Select | ENSP00000367888.1:p.Asp1641= | |
| ENST00000378623.5:c.4923C>T (LRP4) | ENSP00000367888.1:p.Asp1641= | |
| NM_002334.3:c.4923C>T (LRP4) | NP_002325.2:p.Asp1641= | |
| NR_038909.1:n.198-4446G>A (LRP4-AS1) | ||
| XM_011520102.1:c.5136C>T (LRP4) | XP_011518404.1:p.Asp1712= | |
| XM_011520103.1:c.4119C>T (LRP4) | XP_011518405.1:p.Asp1373= | |
| XM_011520104.1:c.2688C>T (LRP4) | XP_011518406.1:p.Asp896= | |
| XM_011520103.2:c.4119C>T (LRP4) | XP_011518405.1:p.Asp1373= | |
| XM_011520104.2:c.2688C>T (LRP4) | XP_011518406.1:p.Asp896= | |
| XM_017017734.1:c.4923C>T (LRP4) | XP_016873223.1:p.Asp1641= | |
| NM_002334.4:c.4923C>T (LRP4) MANE Select | NP_002325.2:p.Asp1641= |