Linked Data
ClinVar Variation Id:
349389
dbSNP Id:
rs370169775
ExAC:
4:660309 C / T
gnomAD v2:
4-660309-C-T
gnomAD v3:
4-666520-C-T
gnomAD v4:
4-666520-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.666520C>T , CM000666.2:g.666520C>T | GRCh38 |
| NC_000004.11:g.660309C>T , CM000666.1:g.660309C>T | GRCh37 |
| NC_000004.10:g.650309C>T | NCBI36 |
| NG_009839.1:g.45947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.2269-11C>T MANE Select | ENSP00000420295.1:n.2269-11C>T | |
| ENST00000255622.10:c.2269-11C>T | ENSP00000255622.6:n.2269-11C>T | |
| ENST00000429163.6:c.1432-11C>T | ENSP00000406334.2:n.1432-11C>T | |
| ENST00000461490.1:c.111-11C>T | ||
| ENST00000471824.6:c.349-11C>T | ENSP00000417852.2:n.349-11C>T | |
| ENST00000496514.5:c.2269-11C>T | ENSP00000420295.1:n.2269-11C>T | |
| NM_000283.3:c.2269-11C>T | NP_000274.2:n.2269-11C>T | |
| NM_001145291.1:c.2269-11C>T | NP_001138763.1:n.2269-11C>T | |
| NM_001145292.1:c.1432-11C>T | NP_001138764.1:n.1432-11C>T | |
| XM_011513473.1:c.2488-11C>T | XP_011511775.1:n.2488-11C>T | |
| XM_011513474.1:c.2488-11C>T | XP_011511776.1:n.2488-11C>T | |
| XM_011513475.1:c.2269-11C>T | XP_011511777.1:n.2269-11C>T | |
| XM_011513476.1:c.2488-11C>T | XP_011511778.1:n.2488-11C>T | |
| XM_011513477.1:c.1474-11C>T | XP_011511779.1:n.1474-11C>T | |
| XM_011513478.1:c.1198-11C>T | XP_011511780.1:n.1198-11C>T | |
| NM_001350154.1:c.1432-11C>T | NP_001337083.1:n.1432-11C>T | |
| NM_001350155.1:c.1114-11C>T | NP_001337084.1:n.1114-11C>T | |
| XM_011513473.3:c.2488-11C>T | XP_011511775.1:n.2488-11C>T | |
| XM_011513474.3:c.2488-11C>T | XP_011511776.1:n.2488-11C>T | |
| XM_011513475.2:c.2269-11C>T | XP_011511777.1:n.2269-11C>T | |
| XM_011513476.3:c.2488-11C>T | XP_011511778.1:n.2488-11C>T | |
| XM_011513478.2:c.1198-11C>T | XP_011511780.1:n.1198-11C>T | |
| XM_017008284.1:c.1432-11C>T | XP_016863773.1:n.1432-11C>T | |
| XM_017008285.1:c.1432-11C>T | XP_016863774.1:n.1432-11C>T | |
| XM_017008286.1:c.1432-11C>T | XP_016863775.1:n.1432-11C>T | |
| NM_001350154.2:c.1432-11C>T | NP_001337083.1:n.1432-11C>T | |
| NM_001350155.2:c.1114-11C>T | NP_001337084.1:n.1114-11C>T | |
| NM_000283.4:c.2269-11C>T MANE Select | NP_000274.3:n.2269-11C>T | |
| NM_001145291.2:c.2269-11C>T | NP_001138763.2:n.2269-11C>T | |
| NM_001145292.2:c.1432-11C>T | NP_001138764.2:n.1432-11C>T | |
| NM_001350154.3:c.1432-11C>T | NP_001337083.1:n.1432-11C>T | |
| NM_001350155.3:c.1114-11C>T | NP_001337084.1:n.1114-11C>T | |
| NM_001379246.1:c.1432-11C>T | NP_001366175.1:n.1432-11C>T | |
| NM_001379247.1:c.1432-11C>T | NP_001366176.1:n.1432-11C>T |