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:
CA657447716
Gene:
Linked Data
dbSNP Id:
rs2070490875
gnomAD v3:
18-49001692-T-C
gnomAD v4:
18-49001692-T-C
COSMIC:
COSN1745281
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49001692T>C , CM000680.2:g.49001692T>C | GRCh38 |
| NC_000018.9:g.46528062T>C , CM000680.1:g.46528062T>C | GRCh37 |
| NC_000018.8:g.44782060T>C | NCBI36 |