Linked Data
ClinVar Variation Id:
488758
ClinVar RCV Id:
RCV000578633
dbSNP Id:
rs1554889993
gnomAD v4:
10-87863658-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863658A>G , CM000672.2:g.87863658A>G | GRCh38 |
| NC_000010.10:g.89623415A>G , CM000672.1:g.89623415A>G | GRCh37 |
| NC_000010.9:g.89613395A>G | NCBI36 |
| NG_007466.2:g.5221A>G , LRG_311:g.5221A>G | |
| NG_033079.1:g.4780T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.-812A>G | ENSP00000514759.2:n.-812A>G | |
| ENST00000710265.1:c.-812A>G | ENSP00000518161.1:n.-812A>G | |
| ENST00000706954.1:c.-16-796A>G | ENSP00000516674.1:n.-16-796A>G | |
| ENST00000706955.1:c.-812A>G | ENSP00000516675.1:n.-812A>G | |
| ENST00000688158.1:c.-812A>G | ENSP00000509254.1:n.-812A>G | |
| ENST00000688308.1:c.-17+545A>G | ENSP00000508752.1:n.-17+545A>G | |
| ENST00000693560.1:c.-292A>G | ENSP00000509861.1:n.-292A>G | |
| ENST00000371953.8:c.-812A>G MANE Select | ENSP00000361021.3:n.-812A>G | |
| ENST00000371953.7:c.-812A>G | ENSP00000361021.3:n.-812A>G | |
| ENST00000610634.1:c.-914A>G | ENSP00000477517.1:n.-914A>G | |
| NM_000314.5:c.-811A>G | NP_000305.3:n.-811A>G | |
| NM_000314.6:c.-811A>G | NP_000305.3:n.-811A>G | |
| NM_001304717.2:c.-292A>G | NP_001291646.2:n.-292A>G | |
| NM_001304718.1:c.-1516A>G | NP_001291647.1:n.-1516A>G | |
| NM_000314.7:c.-811A>G | NP_000305.3:n.-811A>G | |
| NM_001304717.5:c.-292A>G | NP_001291646.4:n.-292A>G | |
| NM_001304718.2:c.-1516A>G | NP_001291647.1:n.-1516A>G | |
| NM_000314.8:c.-812A>G MANE Select | NP_000305.3:n.-812A>G |