Linked Data
ClinVar Variation Id:
1237676
ClinVar RCV Id:
RCV001637224
dbSNP Id:
rs1012672
ExAC:
12:12284915 G / A
gnomAD v2:
12-12284915-G-A
gnomAD v3:
12-12131981-G-A
gnomAD v4:
12-12131981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12131981G>A , CM000674.2:g.12131981G>A | GRCh38 |
| NC_000012.11:g.12284915G>A , CM000674.1:g.12284915G>A | GRCh37 |
| NC_000012.10:g.12176182G>A | NCBI36 |
| NG_016168.1:g.139897C>T | |
| NG_016168.2:g.139897C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261349.9:c.3810C>T (LRP6) MANE Select | ENSP00000261349.4:p.Cys1270= | |
| ENST00000261349.8:c.3810C>T (LRP6) | ENSP00000261349.4:p.Cys1270= | |
| ENST00000298566.2:c.712-6855G>A (BCL2L14) | ENSP00000298566.1:n.712-6855G>A | |
| ENST00000538239.5:c.3404C>T (LRP6) | ||
| ENST00000540415.1:n.131C>T (LRP6) | ||
| ENST00000543091.1:c.3734-59C>T (LRP6) | ENSP00000442472.1:n.3734-59C>T | |
| NM_002336.2:c.3810C>T (LRP6) | NP_002327.2:p.Cys1270= | |
| XM_006719078.2:c.3810C>T (LRP6) | XP_006719141.1:p.Cys1270= | |
| XM_011520671.1:c.3357C>T (LRP6) | XP_011518973.1:p.Cys1119= | |
| XR_429034.1:n.3943C>T (LRP6) | ||
| XR_429035.1:n.3943C>T (LRP6) | ||
| XM_006719078.4:c.3810C>T (LRP6) | XP_006719141.1:p.Cys1270= | |
| XM_011520671.3:c.3357C>T (LRP6) | XP_011518973.1:p.Cys1119= | |
| XR_002957325.1:n.3943C>T (LRP6) | ||
| XR_429035.3:n.3943C>T (LRP6) | ||
| NM_002336.3:c.3810C>T (LRP6) MANE Select | NP_002327.2:p.Cys1270= |