COSMIC:
COSN17133211 (not active)
COSN17136688 (not active)
COSN17137694 (not active)
COSN17140396 (not active)
COSN17147970 (not active)
COSN17150667 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24042744 (AFR)
Genomes Max Group AF
0.24051936 (AFR)
Exomes Max Group AF
0.23759271 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12138545G>C , CM000674.2:g.12138545G>C | GRCh38 |
| NC_000012.11:g.12291479G>C , CM000674.1:g.12291479G>C | GRCh37 |
| NC_000012.10:g.12182746G>C | NCBI36 |
| NG_016168.1:g.133333C>G | |
| NG_016168.2:g.133333C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261349.9:c.3398-11C>G (LRP6) MANE Select | ENSP00000261349.4:n.3398-11C>G | |
| ENST00000261349.8:c.3398-11C>G (LRP6) | ENSP00000261349.4:n.3398-11C>G | |
| ENST00000298566.2:c.712-291G>C (BCL2L14) | ENSP00000298566.1:n.712-291G>C | |
| ENST00000538239.5:c.2992-11C>G (LRP6) | ||
| ENST00000543091.1:c.3398-11C>G (LRP6) | ENSP00000442472.1:n.3398-11C>G | |
| NM_002336.2:c.3398-11C>G (LRP6) | NP_002327.2:n.3398-11C>G | |
| XM_006719078.2:c.3398-11C>G (LRP6) | XP_006719141.1:n.3398-11C>G | |
| XM_011520671.1:c.2945-11C>G (LRP6) | XP_011518973.1:n.2945-11C>G | |
| XR_429034.1:n.3531-11C>G (LRP6) | ||
| XR_429035.1:n.3531-11C>G (LRP6) | ||
| XM_006719078.4:c.3398-11C>G (LRP6) | XP_006719141.1:n.3398-11C>G | |
| XM_011520671.3:c.2945-11C>G (LRP6) | XP_011518973.1:n.2945-11C>G | |
| XR_002957325.1:n.3531-11C>G (LRP6) | ||
| XR_429035.3:n.3531-11C>G (LRP6) | ||
| NM_002336.3:c.3398-11C>G (LRP6) MANE Select | NP_002327.2:n.3398-11C>G |