Linked Data
ClinVar Variation Id:
304844
dbSNP Id:
rs372637156
ExAC:
11:46880580 G / A
gnomAD v2:
11-46880580-G-A
gnomAD v3:
11-46859029-G-A
gnomAD v4:
11-46859029-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46859029G>A , CM000673.2:g.46859029G>A | GRCh38 |
| NC_000011.9:g.46880580G>A , CM000673.1:g.46880580G>A | GRCh37 |
| NC_000011.8:g.46837156G>A | NCBI36 |
| NG_021394.1:g.64594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.5672C>T (LRP4) MANE Select | ENSP00000367888.1:p.Thr1891Met | |
| ENST00000378623.5:c.5672C>T (LRP4) | ENSP00000367888.1:p.Thr1891Met | |
| ENST00000529604.1:n.615C>T (LRP4) | ||
| NM_002334.3:c.5672C>T (LRP4) | NP_002325.2:p.Thr1891Met | |
| NR_038909.1:n.197+12312G>A (LRP4-AS1) | ||
| XM_011520102.1:c.5885C>T (LRP4) | XP_011518404.1:p.Thr1962Met | |
| XM_011520103.1:c.4868C>T (LRP4) | XP_011518405.1:p.Thr1623Met | |
| XM_011520104.1:c.3437C>T (LRP4) | XP_011518406.1:p.Thr1146Met | |
| XM_011520103.2:c.4868C>T (LRP4) | XP_011518405.1:p.Thr1623Met | |
| XM_011520104.2:c.3437C>T (LRP4) | XP_011518406.1:p.Thr1146Met | |
| NM_002334.4:c.5672C>T (LRP4) MANE Select | NP_002325.2:p.Thr1891Met |