Linked Data
ClinVar Variation Id:
252593
dbSNP Id:
rs141423593
ExAC:
12:48374388 G / A
gnomAD v2:
12-48374388-G-A
gnomAD v3:
12-47980605-G-A
gnomAD v4:
12-47980605-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47980605G>A , CM000674.2:g.47980605G>A | GRCh38 |
| NC_000012.11:g.48374388G>A , CM000674.1:g.48374388G>A | GRCh37 |
| NC_000012.10:g.46660655G>A | NCBI36 |
| NG_008072.1:g.28898C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.2367C>T | ENSP00000338213.6:p.Gly789= | |
| ENST00000380518.8:c.2574C>T MANE Select | ENSP00000369889.3:p.Gly858= | |
| ENST00000337299.6:c.2367C>T | ENSP00000338213.6:p.Gly789= | |
| ENST00000380518.7:c.2574C>T | ENSP00000369889.3:p.Gly858= | |
| ENST00000493991.5:n.1660C>T | ||
| NM_001844.4:c.2574C>T | NP_001835.3:p.Gly858= | |
| NM_033150.2:c.2367C>T | NP_149162.2:p.Gly789= | |
| XM_006719242.2:c.2718C>T | XP_006719305.2:p.Gly906= | |
| XM_011537928.1:c.2718C>T | XP_011536230.1:p.Gly906= | |
| XM_011537929.1:c.2718C>T | XP_011536231.1:p.Gly906= | |
| XM_011537930.1:c.2718C>T | XP_011536232.1:p.Gly906= | |
| XM_011537931.1:c.2718C>T | XP_011536233.1:p.Gly906= | |
| XM_011537932.1:c.2718C>T | XP_011536234.1:p.Gly906= | |
| XM_011537933.1:c.2718C>T | XP_011536235.1:p.Gly906= | |
| XM_011537934.1:c.2715C>T | XP_011536236.1:p.Gly905= | |
| XM_011537935.1:c.1662C>T | XP_011536237.1:p.Gly554= | |
| XM_017018828.1:c.2718C>T | XP_016874317.1:p.Gly906= | |
| XM_017018829.1:c.2715C>T | XP_016874318.1:p.Gly905= | |
| XM_017018830.1:c.2508C>T | XP_016874319.1:p.Gly836= | |
| XM_017018831.2:c.2028C>T | XP_016874320.1:p.Gly676= | |
| NM_001844.5:c.2574C>T MANE Select | NP_001835.3:p.Gly858= | |
| NM_033150.3:c.2367C>T | NP_149162.2:p.Gly789= |