Linked Data
ClinVar Variation Id:
304861
dbSNP Id:
rs17848229
ExAC:
11:46895081 G / A
gnomAD v2:
11-46895081-G-A
gnomAD v3:
11-46873530-G-A
gnomAD v4:
11-46873530-G-A
COSMIC:
COSM466843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46873530G>A , CM000673.2:g.46873530G>A | GRCh38 |
| NC_000011.9:g.46895081G>A , CM000673.1:g.46895081G>A | GRCh37 |
| NC_000011.8:g.46851657G>A | NCBI36 |
| NG_021394.1:g.50093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.4293C>T (LRP4) MANE Select | ENSP00000367888.1:p.Asp1431= | |
| ENST00000378623.5:c.4293C>T (LRP4) | ENSP00000367888.1:p.Asp1431= | |
| ENST00000527656.1:n.225C>T (LRP4) | ||
| NM_002334.3:c.4293C>T (LRP4) | NP_002325.2:p.Asp1431= | |
| NR_038909.1:n.654G>A (LRP4-AS1) | ||
| XM_011520102.1:c.4506C>T (LRP4) | XP_011518404.1:p.Asp1502= | |
| XM_011520103.1:c.3489C>T (LRP4) | XP_011518405.1:p.Asp1163= | |
| XM_011520104.1:c.2058C>T (LRP4) | XP_011518406.1:p.Asp686= | |
| XM_011520103.2:c.3489C>T (LRP4) | XP_011518405.1:p.Asp1163= | |
| XM_011520104.2:c.2058C>T (LRP4) | XP_011518406.1:p.Asp686= | |
| XM_017017734.1:c.4293C>T (LRP4) | XP_016873223.1:p.Asp1431= | |
| NM_002334.4:c.4293C>T (LRP4) MANE Select | NP_002325.2:p.Asp1431= |