UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Canonical Allele Identifier:
CA303992320
Gene:
Linked Data
ClinVar Variation Id:
1326222
ClinVar RCV Id:
RCV001786283
dbSNP Id:
rs8178965
gnomAD v2:
19-1103865-C-T
gnomAD v3:
19-1103866-C-T
gnomAD v4:
19-1103866-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1103866C>T , CM000681.2:g.1103866C>T | GRCh38 |
| NC_000019.9:g.1103865C>T , CM000681.1:g.1103865C>T | GRCh37 |
| NC_000019.8:g.1054865C>T | NCBI36 |
| NG_050621.1:g.4941C>T |