Linked Data
ClinVar Variation Id:
1590799
ClinVar RCV Id:
RCV002103815
dbSNP Id:
rs760573262
ExAC:
12:48387610 C / T
gnomAD v2:
12-48387610-C-T
gnomAD v3:
12-47993827-C-T
gnomAD v4:
12-47993827-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47993827C>T , CM000674.2:g.47993827C>T | GRCh38 |
| NC_000012.11:g.48387610C>T , CM000674.1:g.48387610C>T | GRCh37 |
| NC_000012.10:g.46673877C>T | NCBI36 |
| NG_008072.1:g.15676G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.699G>A | ENSP00000338213.6:p.Ala233= | |
| ENST00000380518.8:c.906G>A MANE Select | ENSP00000369889.3:p.Ala302= | |
| ENST00000337299.6:c.699G>A | ENSP00000338213.6:p.Ala233= | |
| ENST00000380518.7:c.906G>A | ENSP00000369889.3:p.Ala302= | |
| NM_001844.4:c.906G>A | NP_001835.3:p.Ala302= | |
| NM_033150.2:c.699G>A | NP_149162.2:p.Ala233= | |
| XM_006719242.2:c.1050G>A | XP_006719305.2:p.Ala350= | |
| XM_011537928.1:c.1050G>A | XP_011536230.1:p.Ala350= | |
| XM_011537929.1:c.1050G>A | XP_011536231.1:p.Ala350= | |
| XM_011537930.1:c.1050G>A | XP_011536232.1:p.Ala350= | |
| XM_011537931.1:c.1050G>A | XP_011536233.1:p.Ala350= | |
| XM_011537932.1:c.1050G>A | XP_011536234.1:p.Ala350= | |
| XM_011537933.1:c.1050G>A | XP_011536235.1:p.Ala350= | |
| XM_011537934.1:c.1047G>A | XP_011536236.1:p.Ala349= | |
| XM_017018828.1:c.1050G>A | XP_016874317.1:p.Ala350= | |
| XM_017018829.1:c.1047G>A | XP_016874318.1:p.Ala349= | |
| XM_017018830.1:c.840G>A | XP_016874319.1:p.Ala280= | |
| XM_017018831.2:c.360G>A | XP_016874320.1:p.Ala120= | |
| NM_001844.5:c.906G>A MANE Select | NP_001835.3:p.Ala302= | |
| NM_033150.3:c.699G>A | NP_149162.2:p.Ala233= |