Linked Data
ClinVar Variation Id:
304835
ClinVar RCV Id:
RCV000276045
dbSNP Id:
rs886048344
gnomAD v3:
11-46858203-G-A
gnomAD v4:
11-46858203-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46858203G>A , CM000673.2:g.46858203G>A | GRCh38 |
| NC_000011.9:g.46879754G>A , CM000673.1:g.46879754G>A | GRCh37 |
| NC_000011.8:g.46836330G>A | NCBI36 |
| NG_021394.1:g.65420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.*780C>T (LRP4) MANE Select | ENSP00000367888.1:n.*780C>T | |
| ENST00000378623.5:c.*780C>T (LRP4) | ENSP00000367888.1:n.*780C>T | |
| ENST00000529604.1:n.1441C>T (LRP4) | ||
| NM_002334.3:c.*780C>T (LRP4) | NP_002325.2:n.*780C>T | |
| NR_038909.1:n.197+11486G>A (LRP4-AS1) | ||
| XM_011520102.1:c.*780C>T (LRP4) | XP_011518404.1:n.*780C>T | |
| XM_011520103.1:c.*780C>T (LRP4) | XP_011518405.1:n.*780C>T | |
| XM_011520104.1:c.*780C>T (LRP4) | XP_011518406.1:n.*780C>T | |
| XM_011520103.2:c.*780C>T (LRP4) | XP_011518405.1:n.*780C>T | |
| XM_011520104.2:c.*780C>T (LRP4) | XP_011518406.1:n.*780C>T | |
| NM_002334.4:c.*780C>T (LRP4) MANE Select | NP_002325.2:n.*780C>T |