Linked Data
ClinVar Variation Id:
1263505
ClinVar RCV Id:
RCV001672322
dbSNP Id:
rs17373080
gnomAD v2:
19-50879524-C-G
gnomAD v3:
19-50376267-C-G
gnomAD v4:
19-50376267-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50376267C>G , CM000681.2:g.50376267C>G | GRCh38 |
| NC_000019.9:g.50879524C>G , CM000681.1:g.50879524C>G | GRCh37 |
| NC_000019.8:g.55571336C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652203.1:c.-127-452C>G | ENSP00000499121.1:n.-127-452C>G | |
| ENST00000593532.5:c.-437C>G | ENSP00000472271.1:n.-437C>G | |
| ENST00000600355.5:c.-127-452C>G | ENSP00000473099.1:n.-127-452C>G |