Linked Data
ClinVar Variation Id:
291732
ClinVar RCV Id:
RCV000259969
dbSNP Id:
rs886045033
gnomAD v3:
1-11012714-C-T
gnomAD v4:
1-11012714-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11012714C>T , CM000663.2:g.11012714C>T | GRCh38 |
| NC_000001.10:g.11072771C>T , CM000663.1:g.11072771C>T | GRCh37 |
| NC_000001.9:g.10995358C>T | NCBI36 |
| NG_008734.1:g.5093C>T , LRG_659:g.5093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240185.8:c.-42C>T MANE Select | ENSP00000240185.4:n.-42C>T | |
| ENST00000639083.1:c.-13+234C>T | ENSP00000491203.1:n.-13+234C>T | |
| ENST00000639599.1:c.-13+108C>T | ENSP00000492196.1:n.-13+108C>T | |
| ENST00000240185.7:c.-42C>T | ENSP00000240185.3:n.-42C>T | |
| ENST00000439080.6:c.-42C>T | ENSP00000404666.3:n.-42C>T | |
| ENST00000472476.5:c.-42C>T | ENSP00000465080.1:n.-42C>T | |
| ENST00000473118.5:c.-13+286C>T | ENSP00000465240.1:n.-13+286C>T | |
| ENST00000476201.5:c.-42C>T | ENSP00000466842.2:n.-42C>T | |
| ENST00000613864.4:n.61C>T | ||
| ENST00000614757.4:c.-42C>T | ENSP00000481867.1:n.-42C>T | |
| ENST00000621715.4:c.-42C>T | ENSP00000480690.1:n.-42C>T | |
| ENST00000629725.2:c.-42C>T | ENSP00000486989.1:n.-42C>T | |
| NM_007375.3:c.-42C>T , LRG_659t1:c.-42C>T | NP_031401.1:n.-42C>T | |
| XR_946596.1:n.81C>T | ||
| XR_946597.1:n.81C>T | ||
| XM_017000863.2:c.-42C>T | XP_016856352.1:n.-42C>T | |
| XM_017000864.2:c.-42C>T | XP_016856353.1:n.-42C>T | |
| XM_017000865.2:c.-42C>T | XP_016856354.1:n.-42C>T | |
| XM_017000866.2:c.-42C>T | XP_016856355.1:n.-42C>T | |
| XM_017000867.2:c.-42C>T | XP_016856356.1:n.-42C>T | |
| XM_017000868.2:c.-42C>T | XP_016856357.1:n.-42C>T | |
| NM_007375.4:c.-42C>T MANE Select | NP_031401.1:n.-42C>T |