Linked Data
ClinVar Variation Id:
1204126
ClinVar RCV Id:
RCV001570389
dbSNP Id:
rs1858335574
gnomAD v4:
10-87863553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863553G>A , CM000672.2:g.87863553G>A | GRCh38 |
| NC_000010.10:g.89623310G>A , CM000672.1:g.89623310G>A | GRCh37 |
| NC_000010.9:g.89613290G>A | NCBI36 |
| NG_007466.2:g.5116G>A , LRG_311:g.5116G>A | |
| NG_033079.1:g.4885C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-16-901G>A | ENSP00000516674.1:n.-16-901G>A | |
| ENST00000688308.1:c.-17+440G>A | ENSP00000508752.1:n.-17+440G>A | |
| ENST00000693560.1:c.-397G>A | ENSP00000509861.1:n.-397G>A | |
| ENST00000371953.7:c.-917G>A | ENSP00000361021.3:n.-917G>A | |
| ENST00000610634.1:c.-1019G>A | ENSP00000477517.1:n.-1019G>A | |
| NM_000314.5:c.-916G>A | NP_000305.3:n.-916G>A | |
| NM_000314.6:c.-916G>A | NP_000305.3:n.-916G>A | |
| NM_001304717.2:c.-397G>A | NP_001291646.2:n.-397G>A | |
| NM_001304718.1:c.-1621G>A | NP_001291647.1:n.-1621G>A |