Linked Data
ClinVar Variation Id:
2172388
dbSNP Id:
rs767566588
ExAC:
11:46880744 G / A
gnomAD v2:
11-46880744-G-A
gnomAD v3:
11-46859193-G-A
gnomAD v4:
11-46859193-G-A
COSMIC:
COSM4499804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46859193G>A , CM000673.2:g.46859193G>A | GRCh38 |
| NC_000011.9:g.46880744G>A , CM000673.1:g.46880744G>A | GRCh37 |
| NC_000011.8:g.46837320G>A | NCBI36 |
| NG_021394.1:g.64430C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.5508C>T (LRP4) MANE Select | ENSP00000367888.1:p.Leu1836= | |
| ENST00000378623.5:c.5508C>T (LRP4) | ENSP00000367888.1:p.Leu1836= | |
| ENST00000529604.1:n.451C>T (LRP4) | ||
| NM_002334.3:c.5508C>T (LRP4) | NP_002325.2:p.Leu1836= | |
| NR_038909.1:n.197+12476G>A (LRP4-AS1) | ||
| XM_011520102.1:c.5721C>T (LRP4) | XP_011518404.1:p.Leu1907= | |
| XM_011520103.1:c.4704C>T (LRP4) | XP_011518405.1:p.Leu1568= | |
| XM_011520104.1:c.3273C>T (LRP4) | XP_011518406.1:p.Leu1091= | |
| XM_011520103.2:c.4704C>T (LRP4) | XP_011518405.1:p.Leu1568= | |
| XM_011520104.2:c.3273C>T (LRP4) | XP_011518406.1:p.Leu1091= | |
| NM_002334.4:c.5508C>T (LRP4) MANE Select | NP_002325.2:p.Leu1836= |