Linked Data
ClinVar Variation Id:
291731
ClinVar RCV Id:
RCV000300041
dbSNP Id:
rs886045032
gnomAD v4:
1-11012679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11012679G>A , CM000663.2:g.11012679G>A | GRCh38 |
| NC_000001.10:g.11072736G>A , CM000663.1:g.11072736G>A | GRCh37 |
| NC_000001.9:g.10995323G>A | NCBI36 |
| NG_008734.1:g.5058G>A , LRG_659:g.5058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240185.8:c.-77G>A MANE Select | ENSP00000240185.4:n.-77G>A | |
| ENST00000639083.1:c.-13+199G>A | ENSP00000491203.1:n.-13+199G>A | |
| ENST00000639599.1:c.-13+73G>A | ENSP00000492196.1:n.-13+73G>A | |
| ENST00000240185.7:c.-77G>A | ENSP00000240185.3:n.-77G>A | |
| ENST00000439080.6:c.-77G>A | ENSP00000404666.3:n.-77G>A | |
| ENST00000472476.5:c.-77G>A | ENSP00000465080.1:n.-77G>A | |
| ENST00000473118.5:c.-13+251G>A | ENSP00000465240.1:n.-13+251G>A | |
| ENST00000476201.5:c.-77G>A | ENSP00000466842.2:n.-77G>A | |
| ENST00000613864.4:n.26G>A | ||
| ENST00000614757.4:c.-77G>A | ENSP00000481867.1:n.-77G>A | |
| ENST00000621715.4:c.-77G>A | ENSP00000480690.1:n.-77G>A | |
| ENST00000629725.2:c.-77G>A | ENSP00000486989.1:n.-77G>A | |
| NM_007375.3:c.-77G>A , LRG_659t1:c.-77G>A | NP_031401.1:n.-77G>A | |
| XR_946596.1:n.46G>A | ||
| XR_946597.1:n.46G>A | ||
| XM_017000863.2:c.-77G>A | XP_016856352.1:n.-77G>A | |
| XM_017000864.2:c.-77G>A | XP_016856353.1:n.-77G>A | |
| XM_017000865.2:c.-77G>A | XP_016856354.1:n.-77G>A | |
| XM_017000866.2:c.-77G>A | XP_016856355.1:n.-77G>A | |
| XM_017000867.2:c.-77G>A | XP_016856356.1:n.-77G>A | |
| XM_017000868.2:c.-77G>A | XP_016856357.1:n.-77G>A | |
| NM_007375.4:c.-77G>A MANE Select | NP_031401.1:n.-77G>A |