Linked Data
ClinVar Variation Id:
2914783
ClinVar RCV Id:
RCV003735872
dbSNP Id:
rs758458844
ExAC:
12:12284919 C / T
gnomAD v2:
12-12284919-C-T
gnomAD v3:
12-12131985-C-T
gnomAD v4:
12-12131985-C-T
COSMIC:
COSM3728150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12131985C>T , CM000674.2:g.12131985C>T | GRCh38 |
| NC_000012.11:g.12284919C>T , CM000674.1:g.12284919C>T | GRCh37 |
| NC_000012.10:g.12176186C>T | NCBI36 |
| NG_016168.1:g.139893G>A | |
| NG_016168.2:g.139893G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261349.9:c.3806G>A (LRP6) MANE Select | ENSP00000261349.4:p.Arg1269Gln | |
| ENST00000261349.8:c.3806G>A (LRP6) | ENSP00000261349.4:p.Arg1269Gln | |
| ENST00000298566.2:c.712-6851C>T (BCL2L14) | ENSP00000298566.1:n.712-6851C>T | |
| ENST00000538239.5:c.3400G>A (LRP6) | ||
| ENST00000540415.1:n.127G>A (LRP6) | ||
| ENST00000543091.1:c.3734-63G>A (LRP6) | ENSP00000442472.1:n.3734-63G>A | |
| NM_002336.2:c.3806G>A (LRP6) | NP_002327.2:p.Arg1269Gln | |
| XM_006719078.2:c.3806G>A (LRP6) | XP_006719141.1:p.Arg1269Gln | |
| XM_011520671.1:c.3353G>A (LRP6) | XP_011518973.1:p.Arg1118Gln | |
| XR_429034.1:n.3939G>A (LRP6) | ||
| XR_429035.1:n.3939G>A (LRP6) | ||
| XM_006719078.4:c.3806G>A (LRP6) | XP_006719141.1:p.Arg1269Gln | |
| XM_011520671.3:c.3353G>A (LRP6) | XP_011518973.1:p.Arg1118Gln | |
| XR_002957325.1:n.3939G>A (LRP6) | ||
| XR_429035.3:n.3939G>A (LRP6) | ||
| NM_002336.3:c.3806G>A (LRP6) MANE Select | NP_002327.2:p.Arg1269Gln |