Linked Data
ClinVar Variation Id:
1168056
ClinVar RCV Id:
RCV001517972
dbSNP Id:
rs10421768
gnomAD v2:
19-35772899-A-G
gnomAD v3:
19-35281996-A-G
gnomAD v4:
19-35281996-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35281996A>G , CM000681.2:g.35281996A>G | GRCh38 |
| NC_000019.9:g.35772899A>G , CM000681.1:g.35772899A>G | GRCh37 |
| NC_000019.8:g.40464739A>G | NCBI36 |
| NG_011563.1:g.4490A>G | |
| NG_011563.2:g.4490A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000598398.5:c.-84-498A>G | ENSP00000471894.1:n.-84-498A>G |