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:
CA174826663
Gene:
Linked Data
ClinVar Variation Id:
1233347
ClinVar RCV Id:
RCV001617472
dbSNP Id:
rs2280853
gnomAD v2:
8-30585615-C-T
gnomAD v3:
8-30728098-C-T
gnomAD v4:
8-30728098-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30728098C>T , CM000670.2:g.30728098C>T | GRCh38 |
| NC_000008.10:g.30585615C>T , CM000670.1:g.30585615C>T | GRCh37 |
| NC_000008.9:g.30705157C>T | NCBI36 |
| NG_027719.1:g.4872G>A |