Linked Data
ClinVar Variation Id:
291729
ClinVar RCV Id:
RCV000402051
dbSNP Id:
rs886045031
gnomAD v2:
1-11072696-G-A
gnomAD v3:
1-11012639-G-A
gnomAD v4:
1-11012639-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11012639G>A , CM000663.2:g.11012639G>A | GRCh38 |
| NC_000001.10:g.11072696G>A , CM000663.1:g.11072696G>A | GRCh37 |
| NC_000001.9:g.10995283G>A | NCBI36 |
| NG_008734.1:g.5018G>A , LRG_659:g.5018G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639083.1:c.-13+159G>A | ENSP00000491203.1:n.-13+159G>A | |
| ENST00000639599.1:c.-13+33G>A | ENSP00000492196.1:n.-13+33G>A | |
| ENST00000240185.7:c.-117G>A | ENSP00000240185.3:n.-117G>A | |
| ENST00000473118.5:c.-13+211G>A | ENSP00000465240.1:n.-13+211G>A | |
| ENST00000629725.2:c.-117G>A | ENSP00000486989.1:n.-117G>A | |
| NM_007375.3:c.-117G>A , LRG_659t1:c.-117G>A | NP_031401.1:n.-117G>A | |
| XR_946596.1:n.6G>A | ||
| XR_946597.1:n.6G>A |