Linked Data
ClinVar Variation Id:
310402
ClinVar RCV Id:
RCV000378752
dbSNP Id:
rs886049821
gnomAD v2:
12-7342294-C-T
gnomAD v3:
12-7189698-C-T
gnomAD v4:
12-7189698-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7189698C>T , CM000674.2:g.7189698C>T | GRCh38 |
| NC_000012.11:g.7342294C>T , CM000674.1:g.7342294C>T | GRCh37 |
| NC_000012.10:g.7233561C>T | NCBI36 |
| NG_008448.1:g.5536C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675855.1:c.-69C>T MANE Select | ENSP00000502374.1:n.-69C>T | |
| ENST00000266563.9:c.-69C>T | ENSP00000266563.5:n.-69C>T | |
| ENST00000434354.6:c.-69C>T | ENSP00000407401.2:n.-69C>T | |
| ENST00000455147.6:c.-212+167C>T | ENSP00000400647.2:n.-212+167C>T | |
| ENST00000536883.5:c.-103+888C>T | ENSP00000441553.1:n.-103+888C>T | |
| ENST00000540398.5:c.-17+167C>T | ENSP00000438494.1:n.-17+167C>T | |
| ENST00000542539.5:c.-16-664C>T | ENSP00000439025.1:n.-16-664C>T | |
| ENST00000543974.5:c.-143+38C>T | ENSP00000438772.1:n.-143+38C>T | |
| ENST00000544456.5:c.-264C>T | ENSP00000440833.1:n.-264C>T | |
| ENST00000545220.1:n.13C>T | ||
| NM_001131023.1:c.-69C>T | NP_001124495.1:n.-69C>T | |
| NM_001131024.1:c.-69C>T | NP_001124496.1:n.-69C>T | |
| NM_001131025.1:c.-535C>T | NP_001124497.1:n.-535C>T | |
| NM_001131026.1:c.-212+167C>T | NP_001124498.1:n.-212+167C>T | |
| XM_011520796.1:c.-212+167C>T | XP_011519098.1:n.-212+167C>T | |
| XM_011520799.1:c.-17+167C>T | XP_011519101.1:n.-17+167C>T | |
| XM_011520800.1:c.-142C>T | XP_011519102.1:n.-142C>T | |
| NM_001351124.1:c.-16-664C>T | NP_001338053.1:n.-16-664C>T | |
| NM_001351126.1:c.-17+167C>T | NP_001338055.1:n.-17+167C>T | |
| NM_001351127.1:c.-264C>T | NP_001338056.1:n.-264C>T | |
| NM_001351128.1:c.-142C>T | NP_001338057.1:n.-142C>T | |
| NM_001351131.1:c.-17+167C>T | NP_001338060.1:n.-17+167C>T | |
| NM_001351132.1:c.-69C>T | NP_001338061.1:n.-69C>T | |
| NM_001351133.1:c.-264C>T | NP_001338062.1:n.-264C>T | |
| NM_001351134.1:c.-142C>T | NP_001338063.1:n.-142C>T | |
| NM_001351136.1:c.-69C>T | NP_001338065.1:n.-69C>T | |
| NM_001351138.1:c.-69C>T | NP_001338067.1:n.-69C>T | |
| NM_001351139.1:c.-69C>T | NP_001338068.1:n.-69C>T | |
| NM_001351140.1:c.-264C>T | NP_001338069.1:n.-264C>T | |
| XM_017019748.1:c.-17+167C>T | XP_016875237.1:n.-17+167C>T | |
| NM_000319.5:c.-69C>T | NP_000310.2:n.-69C>T | |
| NM_001131023.2:c.-69C>T | NP_001124495.1:n.-69C>T | |
| NM_001131024.2:c.-69C>T | NP_001124496.1:n.-69C>T | |
| NM_001131025.2:c.-535C>T | NP_001124497.1:n.-535C>T | |
| NM_001131026.2:c.-212+167C>T | NP_001124498.1:n.-212+167C>T | |
| NM_001300789.3:c.-299C>T | NP_001287718.2:n.-299C>T | |
| NM_001351124.3:c.-16-664C>T | NP_001338053.1:n.-16-664C>T | |
| NM_001351126.2:c.-17+167C>T | NP_001338055.1:n.-17+167C>T | |
| NM_001351127.2:c.-264C>T | NP_001338056.1:n.-264C>T | |
| NM_001351128.2:c.-142C>T | NP_001338057.1:n.-142C>T | |
| NM_001351130.3:c.-535C>T | NP_001338059.1:n.-535C>T | |
| NM_001351131.2:c.-17+167C>T | NP_001338060.1:n.-17+167C>T | |
| NM_001351132.2:c.-69C>T MANE Select | NP_001338061.1:n.-69C>T | |
| NM_001351133.2:c.-264C>T | NP_001338062.1:n.-264C>T | |
| NM_001351134.2:c.-142C>T | NP_001338063.1:n.-142C>T | |
| NM_001351135.3:c.-299C>T | NP_001338064.2:n.-299C>T | |
| NM_001351136.2:c.-69C>T | NP_001338065.1:n.-69C>T | |
| NM_001351137.3:c.-299C>T | NP_001338066.2:n.-299C>T | |
| NM_001351138.2:c.-69C>T | NP_001338067.1:n.-69C>T | |
| NM_001351139.2:c.-69C>T | NP_001338068.1:n.-69C>T | |
| NM_001351140.2:c.-264C>T | NP_001338069.1:n.-264C>T | |
| NM_001374645.1:c.-67C>T | NP_001361574.1:n.-67C>T | |
| NM_001374646.1:c.-69C>T | NP_001361575.1:n.-69C>T | |
| NM_001374647.2:c.-680C>T | NP_001361576.1:n.-680C>T | |
| NM_001374648.2:c.-680C>T | NP_001361577.1:n.-680C>T | |
| NM_001374649.2:c.-680C>T | NP_001361578.1:n.-680C>T |