Linked Data
ClinVar Variation Id:
368942
ClinVar RCV Id:
RCV000383985
dbSNP Id:
rs4937076
gnomAD v2:
11-125826702-G-A
gnomAD v3:
11-125956807-G-A
gnomAD v4:
11-125956807-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125956807G>A , CM000673.2:g.125956807G>A | GRCh38 |
| NC_000011.9:g.125826702G>A , CM000673.1:g.125826702G>A | GRCh37 |
| NC_000011.8:g.125331912G>A | NCBI36 |
| NG_029776.1:g.111486C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684078.1:c.*4135C>T (CDON) | ENSP00000507318.1:n.*4135C>T | |
| ENST00000638636.2:c.3197G>A (VSIG10L2) | ENSP00000491467.1:n.3197G>A | |
| ENST00000392693.7:c.*4135C>T (CDON) | ENSP00000376458.3:n.*4135C>T | |
| XM_006718950.2:c.3593G>A (VSIG10L2) | XP_006719013.2:n.3593G>A |