Linked Data
ClinVar Variation Id:
1469424
ClinVar RCV Id:
RCV001973023
dbSNP Id:
rs779299308
ExAC:
11:46880824 C / T
gnomAD v2:
11-46880824-C-T
gnomAD v3:
11-46859273-C-T
gnomAD v4:
11-46859273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46859273C>T , CM000673.2:g.46859273C>T | GRCh38 |
| NC_000011.9:g.46880824C>T , CM000673.1:g.46880824C>T | GRCh37 |
| NC_000011.8:g.46837400C>T | NCBI36 |
| NG_021394.1:g.64350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.5428G>A (LRP4) MANE Select | ENSP00000367888.1:p.Val1810Ile | |
| ENST00000378623.5:c.5428G>A (LRP4) | ENSP00000367888.1:p.Val1810Ile | |
| ENST00000529604.1:n.371G>A (LRP4) | ||
| NM_002334.3:c.5428G>A (LRP4) | NP_002325.2:p.Val1810Ile | |
| NR_038909.1:n.197+12556C>T (LRP4-AS1) | ||
| XM_011520102.1:c.5641G>A (LRP4) | XP_011518404.1:p.Val1881Ile | |
| XM_011520103.1:c.4624G>A (LRP4) | XP_011518405.1:p.Val1542Ile | |
| XM_011520104.1:c.3193G>A (LRP4) | XP_011518406.1:p.Val1065Ile | |
| XM_011520103.2:c.4624G>A (LRP4) | XP_011518405.1:p.Val1542Ile | |
| XM_011520104.2:c.3193G>A (LRP4) | XP_011518406.1:p.Val1065Ile | |
| XM_017017734.1:c.*60G>A (LRP4) | XP_016873223.1:n.*60G>A | |
| NM_002334.4:c.5428G>A (LRP4) MANE Select | NP_002325.2:p.Val1810Ile |