Linked Data
dbSNP Id:
rs952939254
gnomAD v2:
17-19559225-C-T
gnomAD v3:
17-19655912-C-T
gnomAD v4:
17-19655912-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19655912C>T , CM000679.2:g.19655912C>T | GRCh38 |
| NC_000017.10:g.19559225C>T , CM000679.1:g.19559225C>T | GRCh37 |
| NC_000017.9:g.19499817C>T | NCBI36 |
| NG_007095.2:g.12162C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.472-454C>T MANE Select | ENSP00000176643.6:n.472-454C>T | |
| ENST00000395575.7:c.471+3280C>T | ENSP00000378942.3:n.471+3280C>T | |
| ENST00000472059.6:c.*30-454C>T | ENSP00000458397.1:n.*30-454C>T | |
| ENST00000581518.6:c.472-454C>T | ENSP00000461916.2:n.472-454C>T | |
| ENST00000582991.6:c.472-454C>T | ENSP00000464153.1:n.472-454C>T | |
| ENST00000671841.1:n.527C>T | ||
| ENST00000671878.1:c.472-454C>T | ENSP00000500516.1:n.472-454C>T | |
| ENST00000672059.1:n.923-454C>T | ||
| ENST00000672322.1:n.1089C>T | ||
| ENST00000672357.1:c.472-454C>T | ENSP00000500092.1:n.472-454C>T | |
| ENST00000672465.1:c.472-454C>T | ENSP00000500517.1:n.472-454C>T | |
| ENST00000672487.1:c.472-454C>T | ENSP00000500740.1:n.472-454C>T | |
| ENST00000672564.1:n.693-454C>T | ||
| ENST00000672567.1:c.363-454C>T | ||
| ENST00000672608.1:n.1007C>T | ||
| ENST00000672709.1:c.326-454C>T | ||
| ENST00000673136.1:c.472-454C>T | ENSP00000500380.1:n.472-454C>T | |
| ENST00000673472.1:n.808-454C>T | ||
| ENST00000176643.10:c.472-454C>T | ENSP00000176643.6:n.472-454C>T | |
| ENST00000339618.8:c.472-454C>T | ENSP00000345774.4:n.472-454C>T | |
| ENST00000395575.6:c.472-454C>T | ENSP00000378942.2:n.472-454C>T | |
| ENST00000446398.6:c.472-454C>T | ENSP00000395845.2:n.472-454C>T | |
| ENST00000472059.5:c.*30-454C>T | ENSP00000458397.1:n.*30-454C>T | |
| ENST00000578614.1:c.*75-454C>T | ENSP00000463128.1:n.*75-454C>T | |
| ENST00000579855.5:c.472-454C>T | ENSP00000463637.1:n.472-454C>T | |
| ENST00000581518.5:c.472-454C>T | ENSP00000461916.1:n.472-454C>T | |
| ENST00000582991.5:c.472-454C>T | ENSP00000464153.1:n.472-454C>T | |
| ENST00000584332.6:c.376-454C>T | ENSP00000466814.1:n.376-454C>T | |
| ENST00000630662.2:c.-510-454C>T | ENSP00000487353.1:n.-510-454C>T | |
| ENST00000631291.2:c.472-454C>T | ENSP00000486085.1:n.472-454C>T | |
| NM_000382.2:c.472-454C>T | NP_000373.1:n.472-454C>T | |
| NM_001031806.1:c.472-454C>T | NP_001026976.1:n.472-454C>T | |
| XM_011523732.1:c.472-454C>T | XP_011522034.1:n.472-454C>T | |
| XM_011523733.1:c.472-454C>T | XP_011522035.1:n.472-454C>T | |
| XM_011523733.2:c.472-454C>T | XP_011522035.1:n.472-454C>T | |
| XM_017024355.1:c.472-454C>T | XP_016879844.1:n.472-454C>T | |
| XM_017024356.2:c.472-454C>T | XP_016879845.1:n.472-454C>T | |
| XM_017024357.1:c.472-454C>T | XP_016879846.1:n.472-454C>T | |
| XM_017024358.2:c.472-454C>T | XP_016879847.1:n.472-454C>T | |
| XM_024450651.1:c.-108-454C>T | XP_024306419.1:n.-108-454C>T | |
| XM_024450652.1:c.-108-454C>T | XP_024306420.1:n.-108-454C>T | |
| NM_000382.3:c.472-454C>T MANE Select | NP_000373.1:n.472-454C>T | |
| NM_001031806.2:c.472-454C>T | NP_001026976.1:n.472-454C>T | |
| NM_001369136.1:c.472-454C>T | NP_001356065.1:n.472-454C>T | |
| NM_001369137.1:c.472-454C>T | NP_001356066.1:n.472-454C>T | |
| NM_001369138.1:c.472-454C>T | NP_001356067.1:n.472-454C>T | |
| NM_001369139.1:c.472-454C>T | NP_001356068.1:n.472-454C>T | |
| NM_001369146.1:c.472-454C>T | NP_001356075.1:n.472-454C>T | |
| NM_001369148.1:c.-108-454C>T | NP_001356077.1:n.-108-454C>T | |
| NM_001369137.2:c.472-454C>T | NP_001356066.1:n.472-454C>T | |
| NM_001369138.2:c.472-454C>T | NP_001356067.1:n.472-454C>T | |
| NM_001369146.2:c.472-454C>T | NP_001356075.1:n.472-454C>T | |
| NM_001369148.2:c.-108-454C>T | NP_001356077.1:n.-108-454C>T |