Linked Data
ClinVar Variation Id:
322219
dbSNP Id:
rs7216
ExAC:
17:19578873 A / T
gnomAD v2:
17-19578873-A-T
gnomAD v3:
17-19675560-A-T
gnomAD v4:
17-19675560-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19675560A>T , CM000679.2:g.19675560A>T | GRCh38 |
| NC_000017.10:g.19578873A>T , CM000679.1:g.19578873A>T | GRCh37 |
| NC_000017.9:g.19519465A>T | NCBI36 |
| NG_007095.2:g.31810A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.1446A>T MANE Select | ENSP00000176643.6:p.Ala482= | |
| ENST00000395575.7:c.1119A>T | ENSP00000378942.3:p.Ala373= | |
| ENST00000472059.6:c.*1006-2A>T | ENSP00000458397.1:n.*1006-2A>T | |
| ENST00000571163.2:c.231-2A>T | ENSP00000459977.2:n.231-2A>T | |
| ENST00000573947.2:c.248-2A>T | ENSP00000462933.2:n.248-2A>T | |
| ENST00000574078.3:n.900A>T | ||
| ENST00000581518.6:c.1446A>T | ENSP00000461916.2:p.Ala482= | |
| ENST00000582991.6:c.*164A>T | ENSP00000464153.1:n.*164A>T | |
| ENST00000671878.1:c.1443+3604A>T | ENSP00000500516.1:n.1443+3604A>T | |
| ENST00000672059.1:n.1797A>T | ||
| ENST00000672357.1:c.1446A>T | ENSP00000500092.1:p.Ala482= | |
| ENST00000672465.1:c.1443+3604A>T | ENSP00000500517.1:n.1443+3604A>T | |
| ENST00000672487.1:c.*628-2A>T | ENSP00000500740.1:n.*628-2A>T | |
| ENST00000672564.1:n.3117-2A>T | ||
| ENST00000672567.1:c.1099-9715A>T | ||
| ENST00000672591.1:c.633-2A>T | ||
| ENST00000672608.1:n.2435A>T | ||
| ENST00000673136.1:c.1212-2A>T | ENSP00000500380.1:n.1212-2A>T | |
| ENST00000673472.1:n.1784-2A>T | ||
| ENST00000673516.1:n.1906A>T | ||
| ENST00000176643.10:c.1446A>T | ENSP00000176643.6:p.Ala482= | |
| ENST00000339618.8:c.*44A>T | ENSP00000345774.4:n.*44A>T | |
| ENST00000395575.6:c.1446A>T | ENSP00000378942.2:p.Ala482= | |
| ENST00000472059.5:c.*1004A>T | ENSP00000458397.1:n.*1004A>T | |
| ENST00000476965.5:n.1196A>T | ||
| ENST00000571163.1:c.229A>T | ENSP00000459977.1:p.Arg77Ter | |
| ENST00000573505.1:n.1477A>T | ||
| ENST00000573565.1:c.230A>T | ||
| ENST00000573947.1:c.353A>T | ENSP00000462933.1:n.353A>T | |
| ENST00000574597.1:n.208A>T | ||
| ENST00000575384.2:c.270-2A>T | ENSP00000461235.2:n.270-2A>T | |
| ENST00000579855.5:c.1446A>T | ENSP00000463637.1:p.Ala482= | |
| ENST00000581518.5:c.*46-2A>T | ENSP00000461916.1:n.*46-2A>T | |
| ENST00000582991.5:c.*166-2A>T | ENSP00000464153.1:n.*166-2A>T | |
| ENST00000630662.2:c.229A>T | ENSP00000487353.1:p.Arg77Ter | |
| ENST00000631291.2:c.*164A>T | ENSP00000486085.1:n.*164A>T | |
| NM_000382.2:c.1446A>T | NP_000373.1:p.Ala482= | |
| NM_001031806.1:c.*44A>T | NP_001026976.1:n.*44A>T | |
| XM_011523732.1:c.*44A>T | XP_011522034.1:n.*44A>T | |
| XM_011523733.1:c.*44A>T | XP_011522035.1:n.*44A>T | |
| XM_011523733.2:c.*44A>T | XP_011522035.1:n.*44A>T | |
| XM_017024355.1:c.1210A>T | XP_016879844.1:p.Arg404Ter | |
| XM_017024356.2:c.1446A>T | XP_016879845.1:p.Ala482= | |
| XM_017024357.1:c.1446A>T | XP_016879846.1:p.Ala482= | |
| XM_017024358.2:c.1210A>T | XP_016879847.1:p.Arg404Ter | |
| XM_024450651.1:c.*44A>T | XP_024306419.1:n.*44A>T | |
| XM_024450652.1:c.867A>T | XP_024306420.1:p.Ala289= | |
| NM_000382.3:c.1446A>T MANE Select | NP_000373.1:p.Ala482= | |
| NM_001031806.2:c.*44A>T | NP_001026976.1:n.*44A>T | |
| NM_001369136.1:c.*44A>T | NP_001356065.1:n.*44A>T | |
| NM_001369137.1:c.*44A>T | NP_001356066.1:n.*44A>T | |
| NM_001369138.1:c.1446A>T | NP_001356067.1:p.Ala482= | |
| NM_001369139.1:c.1446A>T | NP_001356068.1:p.Ala482= | |
| NM_001369146.1:c.1210A>T | NP_001356075.1:p.Arg404Ter | |
| NM_001369148.1:c.867A>T | NP_001356077.1:p.Ala289= | |
| NM_001369137.2:c.*44A>T | NP_001356066.1:n.*44A>T | |
| NM_001369138.2:c.1446A>T | NP_001356067.1:p.Ala482= | |
| NM_001369146.2:c.1210A>T | NP_001356075.1:p.Arg404Ter | |
| NM_001369148.2:c.867A>T | NP_001356077.1:p.Ala289= |