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:
CA45472064
Gene:
Linked Data
dbSNP Id:
rs76118684
gnomAD v3:
2-34447806-T-A
gnomAD v4:
2-34447806-T-A
COSMIC:
COSN18789691
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.34447806T>A , CM000664.2:g.34447806T>A | GRCh38 |
| NC_000002.11:g.34672873T>A , CM000664.1:g.34672873T>A | GRCh37 |
| NC_000002.10:g.34526377T>A | NCBI36 |