Linked Data
ClinVar Variation Id:
890171
dbSNP Id:
rs1054840414
gnomAD v3:
17-19671860-T-C
gnomAD v4:
17-19671860-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19671860T>C , CM000679.2:g.19671860T>C | GRCh38 |
| NC_000017.10:g.19575173T>C , CM000679.1:g.19575173T>C | GRCh37 |
| NC_000017.9:g.19515765T>C | NCBI36 |
| NG_007095.2:g.28110T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.1347T>C MANE Select | ENSP00000176643.6:p.Asp449= | |
| ENST00000395575.7:c.1020T>C | ENSP00000378942.3:p.Asp340= | |
| ENST00000472059.6:c.*905T>C | ENSP00000458397.1:n.*905T>C | |
| ENST00000571163.2:c.227-3636T>C | ENSP00000459977.2:n.227-3636T>C | |
| ENST00000573947.2:c.147T>C | ENSP00000462933.2:p.Asp49= | |
| ENST00000574078.3:n.676T>C | ||
| ENST00000581518.6:c.1347T>C | ENSP00000461916.2:p.Asp449= | |
| ENST00000582991.6:c.*65T>C | ENSP00000464153.1:n.*65T>C | |
| ENST00000671878.1:c.1347T>C | ENSP00000500516.1:p.Asp449= | |
| ENST00000672059.1:n.1698T>C | ||
| ENST00000672357.1:c.1347T>C | ENSP00000500092.1:p.Asp449= | |
| ENST00000672465.1:c.1347T>C | ENSP00000500517.1:p.Asp449= | |
| ENST00000672487.1:c.*527T>C | ENSP00000500740.1:n.*527T>C | |
| ENST00000672564.1:n.3016T>C | ||
| ENST00000672567.1:c.1098+6813T>C | ||
| ENST00000672591.1:c.407T>C | ||
| ENST00000672608.1:n.2336T>C | ||
| ENST00000672709.1:c.1201T>C | ||
| ENST00000673064.1:n.1847T>C | ||
| ENST00000673136.1:c.1208-3636T>C | ENSP00000500380.1:n.1208-3636T>C | |
| ENST00000673472.1:n.1683T>C | ||
| ENST00000673516.1:n.1807T>C | ||
| ENST00000176643.10:c.1347T>C | ENSP00000176643.6:p.Asp449= | |
| ENST00000339618.8:c.1347T>C | ENSP00000345774.4:p.Asp449= | |
| ENST00000395575.6:c.1347T>C | ENSP00000378942.2:p.Asp449= | |
| ENST00000472059.5:c.*905T>C | ENSP00000458397.1:n.*905T>C | |
| ENST00000476965.5:n.1097T>C | ||
| ENST00000571163.1:c.227-3698T>C | ENSP00000459977.1:n.227-3698T>C | |
| ENST00000573565.1:c.62T>C | ||
| ENST00000573947.1:c.254T>C | ENSP00000462933.1:n.254T>C | |
| ENST00000575384.2:c.93T>C | ENSP00000461235.2:p.Asp31= | |
| ENST00000579855.5:c.1347T>C | ENSP00000463637.1:p.Asp449= | |
| ENST00000581518.5:c.1347T>C | ENSP00000461916.1:p.Asp449= | |
| ENST00000582991.5:c.*65T>C | ENSP00000464153.1:n.*65T>C | |
| ENST00000630662.2:c.227-3698T>C | ENSP00000487353.1:n.227-3698T>C | |
| ENST00000631291.2:c.*65T>C | ENSP00000486085.1:n.*65T>C | |
| NM_000382.2:c.1347T>C | NP_000373.1:p.Asp449= | |
| NM_001031806.1:c.1347T>C | NP_001026976.1:p.Asp449= | |
| XM_011523732.1:c.1347T>C | XP_011522034.1:p.Asp449= | |
| XM_011523733.1:c.1347T>C | XP_011522035.1:p.Asp449= | |
| XM_011523733.2:c.1347T>C | XP_011522035.1:p.Asp449= | |
| XM_017024355.1:c.1208-3698T>C | XP_016879844.1:n.1208-3698T>C | |
| XM_017024356.2:c.1347T>C | XP_016879845.1:p.Asp449= | |
| XM_017024357.1:c.1347T>C | XP_016879846.1:p.Asp449= | |
| XM_017024358.2:c.1208-3698T>C | XP_016879847.1:n.1208-3698T>C | |
| XM_024450651.1:c.768T>C | XP_024306419.1:p.Asp256= | |
| XM_024450652.1:c.768T>C | XP_024306420.1:p.Asp256= | |
| NM_000382.3:c.1347T>C MANE Select | NP_000373.1:p.Asp449= | |
| NM_001031806.2:c.1347T>C | NP_001026976.1:p.Asp449= | |
| NM_001369136.1:c.1347T>C | NP_001356065.1:p.Asp449= | |
| NM_001369137.1:c.1347T>C | NP_001356066.1:p.Asp449= | |
| NM_001369138.1:c.1347T>C | NP_001356067.1:p.Asp449= | |
| NM_001369139.1:c.1347T>C | NP_001356068.1:p.Asp449= | |
| NM_001369146.1:c.1208-3698T>C | NP_001356075.1:n.1208-3698T>C | |
| NM_001369148.1:c.768T>C | NP_001356077.1:p.Asp256= | |
| NM_001369137.2:c.1347T>C | NP_001356066.1:p.Asp449= | |
| NM_001369138.2:c.1347T>C | NP_001356067.1:p.Asp449= | |
| NM_001369146.2:c.1208-3698T>C | NP_001356075.1:n.1208-3698T>C | |
| NM_001369148.2:c.768T>C | NP_001356077.1:p.Asp256= |