Linked Data
ClinVar Variation Id:
2201919
ClinVar RCV Id:
RCV002629845
dbSNP Id:
rs774927274
ExAC:
17:19575086 T / G
gnomAD v2:
17-19575086-T-G
gnomAD v4:
17-19671773-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19671773T>G , CM000679.2:g.19671773T>G | GRCh38 |
| NC_000017.10:g.19575086T>G , CM000679.1:g.19575086T>G | GRCh37 |
| NC_000017.9:g.19515678T>G | NCBI36 |
| NG_007095.2:g.28023T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.1260T>G MANE Select | ENSP00000176643.6:p.Ser420= | |
| ENST00000395575.7:c.933T>G | ENSP00000378942.3:p.Ser311= | |
| ENST00000472059.6:c.*818T>G | ENSP00000458397.1:n.*818T>G | |
| ENST00000571163.2:c.227-3723T>G | ENSP00000459977.2:n.227-3723T>G | |
| ENST00000573947.2:c.60T>G | ENSP00000462933.2:p.Ser20= | |
| ENST00000574078.3:n.589T>G | ||
| ENST00000581518.6:c.1260T>G | ENSP00000461916.2:p.Ser420= | |
| ENST00000582991.6:c.1160T>G | ENSP00000464153.1:p.Leu387Arg | |
| ENST00000671878.1:c.1260T>G | ENSP00000500516.1:p.Ser420= | |
| ENST00000672059.1:n.1611T>G | ||
| ENST00000672357.1:c.1260T>G | ENSP00000500092.1:p.Ser420= | |
| ENST00000672465.1:c.1260T>G | ENSP00000500517.1:p.Ser420= | |
| ENST00000672487.1:c.*440T>G | ENSP00000500740.1:n.*440T>G | |
| ENST00000672564.1:n.2929T>G | ||
| ENST00000672567.1:c.1098+6726T>G | ||
| ENST00000672591.1:c.320T>G | ||
| ENST00000672608.1:n.2249T>G | ||
| ENST00000672709.1:c.1114T>G | ||
| ENST00000673064.1:n.1760T>G | ||
| ENST00000673136.1:c.1208-3723T>G | ENSP00000500380.1:n.1208-3723T>G | |
| ENST00000673472.1:n.1596T>G | ||
| ENST00000673516.1:n.1720T>G | ||
| ENST00000176643.10:c.1260T>G | ENSP00000176643.6:p.Ser420= | |
| ENST00000339618.8:c.1260T>G | ENSP00000345774.4:p.Ser420= | |
| ENST00000395575.6:c.1260T>G | ENSP00000378942.2:p.Ser420= | |
| ENST00000472059.5:c.*818T>G | ENSP00000458397.1:n.*818T>G | |
| ENST00000476965.5:n.1010T>G | ||
| ENST00000571163.1:c.227-3785T>G | ENSP00000459977.1:n.227-3785T>G | |
| ENST00000573947.1:c.167T>G | ENSP00000462933.1:p.Leu56Arg | |
| ENST00000575384.2:c.6T>G | ENSP00000461235.2:p.Ser2= | |
| ENST00000579855.5:c.1260T>G | ENSP00000463637.1:p.Ser420= | |
| ENST00000581518.5:c.1260T>G | ENSP00000461916.1:p.Ser420= | |
| ENST00000582991.5:c.1160T>G | ENSP00000464153.1:p.Leu387Arg | |
| ENST00000630662.2:c.227-3785T>G | ENSP00000487353.1:n.227-3785T>G | |
| ENST00000631291.2:c.1160T>G | ENSP00000486085.1:p.Leu387Arg | |
| NM_000382.2:c.1260T>G | NP_000373.1:p.Ser420= | |
| NM_001031806.1:c.1260T>G | NP_001026976.1:p.Ser420= | |
| XM_011523732.1:c.1260T>G | XP_011522034.1:p.Ser420= | |
| XM_011523733.1:c.1260T>G | XP_011522035.1:p.Ser420= | |
| XM_011523733.2:c.1260T>G | XP_011522035.1:p.Ser420= | |
| XM_017024355.1:c.1208-3785T>G | XP_016879844.1:n.1208-3785T>G | |
| XM_017024356.2:c.1260T>G | XP_016879845.1:p.Ser420= | |
| XM_017024357.1:c.1260T>G | XP_016879846.1:p.Ser420= | |
| XM_017024358.2:c.1208-3785T>G | XP_016879847.1:n.1208-3785T>G | |
| XM_024450651.1:c.681T>G | XP_024306419.1:p.Ser227= | |
| XM_024450652.1:c.681T>G | XP_024306420.1:p.Ser227= | |
| NM_000382.3:c.1260T>G MANE Select | NP_000373.1:p.Ser420= | |
| NM_001031806.2:c.1260T>G | NP_001026976.1:p.Ser420= | |
| NM_001369136.1:c.1260T>G | NP_001356065.1:p.Ser420= | |
| NM_001369137.1:c.1260T>G | NP_001356066.1:p.Ser420= | |
| NM_001369138.1:c.1260T>G | NP_001356067.1:p.Ser420= | |
| NM_001369139.1:c.1260T>G | NP_001356068.1:p.Ser420= | |
| NM_001369146.1:c.1208-3785T>G | NP_001356075.1:n.1208-3785T>G | |
| NM_001369148.1:c.681T>G | NP_001356077.1:p.Ser227= | |
| NM_001369137.2:c.1260T>G | NP_001356066.1:p.Ser420= | |
| NM_001369138.2:c.1260T>G | NP_001356067.1:p.Ser420= | |
| NM_001369146.2:c.1208-3785T>G | NP_001356075.1:n.1208-3785T>G | |
| NM_001369148.2:c.681T>G | NP_001356077.1:p.Ser227= |