Linked Data
dbSNP Id:
rs140002868
ExAC:
12:132325135 G / A
gnomAD v2:
12-132325135-G-A
gnomAD v3:
12-131840590-G-A
gnomAD v4:
12-131840590-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131840590G>A , CM000674.2:g.131840590G>A | GRCh38 |
| NC_000012.11:g.132325135G>A , CM000674.1:g.132325135G>A | GRCh37 |
| NC_000012.10:g.130891088G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000535004.2:c.440G>A | ENSP00000445620.2:p.Arg147Gln | |
| ENST00000545671.6:c.*127G>A | ENSP00000444603.2:n.*127G>A | |
| ENST00000545790.6:c.440G>A | ENSP00000441710.2:p.Arg147Gln | |
| ENST00000360564.5:c.440G>A MANE Select | ENSP00000353767.1:p.Arg147Gln | |
| ENST00000534865.1:c.-38G>A | ENSP00000442104.1:n.-38G>A | |
| ENST00000535291.5:c.188G>A | ENSP00000441106.1:p.Arg63Gln | |
| ENST00000545671.5:c.128G>A | ENSP00000444603.1:p.Arg43Gln | |
| ENST00000545790.5:c.188G>A | ENSP00000441710.1:p.Arg63Gln | |
| NM_016155.4:c.440G>A | NP_057239.4:p.Arg147Gln | |
| XM_011538355.1:c.188G>A | XP_011536657.1:p.Arg63Gln | |
| XM_011538356.1:c.188G>A | XP_011536658.1:p.Arg63Gln | |
| XM_011538357.1:c.188G>A | XP_011536659.1:p.Arg63Gln | |
| XR_944550.1:n.528G>A | ||
| XR_944551.1:n.528G>A | ||
| XR_944552.1:n.528G>A | ||
| NM_016155.6:c.440G>A | NP_057239.4:p.Arg147Gln | |
| XM_011538355.3:c.188G>A | XP_011536657.1:p.Arg63Gln | |
| XM_011538356.3:c.188G>A | XP_011536658.1:p.Arg63Gln | |
| XM_011538357.2:c.188G>A | XP_011536659.1:p.Arg63Gln | |
| XM_017019307.1:c.440G>A | XP_016874796.1:p.Arg147Gln | |
| XR_001748705.1:n.521G>A | ||
| XR_944550.2:n.521G>A | ||
| XR_944551.2:n.521G>A | ||
| XR_944552.2:n.521G>A | ||
| NM_016155.7:c.440G>A MANE Select | NP_057239.4:p.Arg147Gln |