Linked Data
ClinVar Variation Id:
304833
ClinVar RCV Id:
RCV000306447
dbSNP Id:
rs10838623
gnomAD v2:
11-46879517-G-A
gnomAD v3:
11-46857966-G-A
gnomAD v4:
11-46857966-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46857966G>A , CM000673.2:g.46857966G>A | GRCh38 |
| NC_000011.9:g.46879517G>A , CM000673.1:g.46879517G>A | GRCh37 |
| NC_000011.8:g.46836093G>A | NCBI36 |
| NG_021394.1:g.65657C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.*1017C>T (LRP4) MANE Select | ENSP00000367888.1:n.*1017C>T | |
| ENST00000378623.5:c.*1017C>T (LRP4) | ENSP00000367888.1:n.*1017C>T | |
| ENST00000529604.1:n.1678C>T (LRP4) | ||
| NM_002334.3:c.*1017C>T (LRP4) | NP_002325.2:n.*1017C>T | |
| NR_038909.1:n.197+11249G>A (LRP4-AS1) | ||
| XM_011520102.1:c.*1017C>T (LRP4) | XP_011518404.1:n.*1017C>T | |
| XM_011520103.1:c.*1017C>T (LRP4) | XP_011518405.1:n.*1017C>T | |
| XM_011520104.1:c.*1017C>T (LRP4) | XP_011518406.1:n.*1017C>T | |
| XM_011520103.2:c.*1017C>T (LRP4) | XP_011518405.1:n.*1017C>T | |
| XM_011520104.2:c.*1017C>T (LRP4) | XP_011518406.1:n.*1017C>T | |
| NM_002334.4:c.*1017C>T (LRP4) MANE Select | NP_002325.2:n.*1017C>T |