Linked Data
ClinVar Variation Id:
839519
ClinVar RCV Id:
RCV001041293
dbSNP Id:
rs776744207
ExAC:
12:48393837 G / A
gnomAD v2:
12-48393837-G-A
gnomAD v4:
12-48000054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48000054G>A , CM000674.2:g.48000054G>A | GRCh38 |
| NC_000012.11:g.48393837G>A , CM000674.1:g.48393837G>A | GRCh37 |
| NC_000012.10:g.46680104G>A | NCBI36 |
| NG_008072.1:g.9449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.86-1623C>T | ENSP00000338213.6:n.86-1623C>T | |
| ENST00000380518.8:c.157C>T MANE Select | ENSP00000369889.3:p.Arg53Trp | |
| ENST00000490609.2:n.390C>T | ||
| ENST00000337299.6:c.86-1623C>T | ENSP00000338213.6:n.86-1623C>T | |
| ENST00000380518.7:c.157C>T | ENSP00000369889.3:p.Arg53Trp | |
| ENST00000474996.6:n.395C>T | ||
| ENST00000490609.1:n.322C>T | ||
| NM_001844.4:c.157C>T | NP_001835.3:p.Arg53Trp | |
| NM_033150.2:c.86-1623C>T | NP_149162.2:n.86-1623C>T | |
| XM_006719242.2:c.298C>T | XP_006719305.2:p.Arg100Trp | |
| XM_011537928.1:c.298C>T | XP_011536230.1:p.Arg100Trp | |
| XM_011537929.1:c.298C>T | XP_011536231.1:p.Arg100Trp | |
| XM_011537930.1:c.298C>T | XP_011536232.1:p.Arg100Trp | |
| XM_011537931.1:c.298C>T | XP_011536233.1:p.Arg100Trp | |
| XM_011537932.1:c.298C>T | XP_011536234.1:p.Arg100Trp | |
| XM_011537933.1:c.298C>T | XP_011536235.1:p.Arg100Trp | |
| XM_011537934.1:c.298C>T | XP_011536236.1:p.Arg100Trp | |
| XM_017018828.1:c.298C>T | XP_016874317.1:p.Arg100Trp | |
| XM_017018829.1:c.298C>T | XP_016874318.1:p.Arg100Trp | |
| XM_017018830.1:c.227-1623C>T | XP_016874319.1:n.227-1623C>T | |
| XM_017018831.2:c.-390C>T | XP_016874320.1:n.-390C>T | |
| NM_001844.5:c.157C>T MANE Select | NP_001835.3:p.Arg53Trp | |
| NM_033150.3:c.86-1623C>T | NP_149162.2:n.86-1623C>T |