Linked Data
ClinVar Variation Id:
6267
ClinVar RCV Id:
RCV000006645
dbSNP Id:
rs121918313
ExAC:
12:12317428 G / A
gnomAD v2:
12-12317428-G-A
gnomAD v4:
12-12164494-G-A
COSMIC:
COSM4820069
PubMed:
PMID:17332414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12164494G>A , CM000674.2:g.12164494G>A | GRCh38 |
| NC_000012.11:g.12317428G>A , CM000674.1:g.12317428G>A | GRCh37 |
| NC_000012.10:g.12208695G>A | NCBI36 |
| NG_016168.1:g.107384C>T | |
| NG_016168.2:g.107384C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261349.9:c.1831C>T (LRP6) MANE Select | ENSP00000261349.4:p.Arg611Cys | |
| ENST00000261349.8:c.1831C>T (LRP6) | ENSP00000261349.4:p.Arg611Cys | |
| ENST00000298566.2:c.*25-22811G>A (BCL2L14) | ENSP00000298566.1:n.*25-22811G>A | |
| ENST00000538239.5:c.1425C>T (LRP6) | ||
| ENST00000543091.1:c.1831C>T (LRP6) | ENSP00000442472.1:p.Arg611Cys | |
| NM_002336.2:c.1831C>T (LRP6) | NP_002327.2:p.Arg611Cys | |
| XM_006719078.2:c.1831C>T (LRP6) | XP_006719141.1:p.Arg611Cys | |
| XM_011520671.1:c.1378C>T (LRP6) | XP_011518973.1:p.Arg460Cys | |
| XR_429034.1:n.1964C>T (LRP6) | ||
| XR_429035.1:n.1964C>T (LRP6) | ||
| XM_006719078.4:c.1831C>T (LRP6) | XP_006719141.1:p.Arg611Cys | |
| XM_011520671.3:c.1378C>T (LRP6) | XP_011518973.1:p.Arg460Cys | |
| XR_002957325.1:n.1964C>T (LRP6) | ||
| XR_429035.3:n.1964C>T (LRP6) | ||
| NM_002336.3:c.1831C>T (LRP6) MANE Select | NP_002327.2:p.Arg611Cys |