WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Canonical Allele Identifier:
CA115007
Gene:
Linked Data
ClinVar Variation Id:
1420
ClinVar RCV Id:
RCV000001485
dbSNP Id:
rs12896399
gnomAD v2:
14-92773663-G-T
gnomAD v3:
14-92307319-G-T
gnomAD v4:
14-92307319-G-T
PubMed:
PMID:17952075
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92307319G>T , CM000676.2:g.92307319G>T | GRCh38 |
| NC_000014.8:g.92773663G>T , CM000676.1:g.92773663G>T | GRCh37 |
| NC_000014.7:g.91843416G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_944153.1:n.131+2775G>T |