Revel Score:
ENST00000378623 (MANE Select)
0.366
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00166469 (NFE)
Genomes Max Group AF
0.00152106 (NFE)
Exomes Max Group AF
0.00166047 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46859041G>C , CM000673.2:g.46859041G>C | GRCh38 |
| NC_000011.9:g.46880592G>C , CM000673.1:g.46880592G>C | GRCh37 |
| NC_000011.8:g.46837168G>C | NCBI36 |
| NG_021394.1:g.64582C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.5660C>G (LRP4) MANE Select | ENSP00000367888.1:p.Ser1887Cys | |
| ENST00000378623.5:c.5660C>G (LRP4) | ENSP00000367888.1:p.Ser1887Cys | |
| ENST00000529604.1:n.603C>G (LRP4) | ||
| NM_002334.3:c.5660C>G (LRP4) | NP_002325.2:p.Ser1887Cys | |
| NR_038909.1:n.197+12324G>C (LRP4-AS1) | ||
| XM_011520102.1:c.5873C>G (LRP4) | XP_011518404.1:p.Ser1958Cys | |
| XM_011520103.1:c.4856C>G (LRP4) | XP_011518405.1:p.Ser1619Cys | |
| XM_011520104.1:c.3425C>G (LRP4) | XP_011518406.1:p.Ser1142Cys | |
| XM_011520103.2:c.4856C>G (LRP4) | XP_011518405.1:p.Ser1619Cys | |
| XM_011520104.2:c.3425C>G (LRP4) | XP_011518406.1:p.Ser1142Cys | |
| NM_002334.4:c.5660C>G (LRP4) MANE Select | NP_002325.2:p.Ser1887Cys |