Linked Data
ClinVar Variation Id:
1352319
ClinVar RCV Id:
RCV002047514
dbSNP Id:
rs1426761957
gnomAD v4:
10-68231656-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231656C>A , CM000672.2:g.68231656C>A | GRCh38 |
| NC_000010.10:g.69991413C>A , CM000672.1:g.69991413C>A | GRCh37 |
| NC_000010.9:g.69661419C>A | NCBI36 |
| NG_031934.1:g.5458G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.22G>T MANE Select | ENSP00000362777.3:p.Gly8Cys | |
| ENST00000373673.4:c.22G>T | ENSP00000362777.3:p.Gly8Cys | |
| NM_145178.3:c.22G>T | NP_660161.1:p.Gly8Cys | |
| NM_145178.4:c.22G>T MANE Select | NP_660161.1:p.Gly8Cys |