Linked Data
dbSNP Id:
rs1220683606
gnomAD v2:
12-12317266-A-C
gnomAD v3:
12-12164332-A-C
gnomAD v4:
12-12164332-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12164332A>C , CM000674.2:g.12164332A>C | GRCh38 |
| NC_000012.11:g.12317266A>C , CM000674.1:g.12317266A>C | GRCh37 |
| NC_000012.10:g.12208533A>C | NCBI36 |
| NG_016168.1:g.107546T>G | |
| NG_016168.2:g.107546T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261349.9:c.1993T>G (LRP6) MANE Select | ENSP00000261349.4:p.Ser665Ala | |
| ENST00000261349.8:c.1993T>G (LRP6) | ENSP00000261349.4:p.Ser665Ala | |
| ENST00000298566.2:c.*25-22973A>C (BCL2L14) | ENSP00000298566.1:n.*25-22973A>C | |
| ENST00000538239.5:c.1587T>G (LRP6) | ||
| ENST00000543091.1:c.1993T>G (LRP6) | ENSP00000442472.1:p.Ser665Ala | |
| NM_002336.2:c.1993T>G (LRP6) | NP_002327.2:p.Ser665Ala | |
| XM_006719078.2:c.1993T>G (LRP6) | XP_006719141.1:p.Ser665Ala | |
| XM_011520671.1:c.1540T>G (LRP6) | XP_011518973.1:p.Ser514Ala | |
| XR_429034.1:n.2126T>G (LRP6) | ||
| XR_429035.1:n.2126T>G (LRP6) | ||
| XM_006719078.4:c.1993T>G (LRP6) | XP_006719141.1:p.Ser665Ala | |
| XM_011520671.3:c.1540T>G (LRP6) | XP_011518973.1:p.Ser514Ala | |
| XR_002957325.1:n.2126T>G (LRP6) | ||
| XR_429035.3:n.2126T>G (LRP6) | ||
| NM_002336.3:c.1993T>G (LRP6) MANE Select | NP_002327.2:p.Ser665Ala |