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:
CA123818625
Gene:
Linked Data
dbSNP Id:
rs909484129
gnomAD v3:
5-100006415-T-C
gnomAD v4:
5-100006415-T-C
COSMIC:
COSN19121668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.100006415T>C , CM000667.2:g.100006415T>C | GRCh38 |
| NC_000005.9:g.99342119T>C , CM000667.1:g.99342119T>C | GRCh37 |
| NC_000005.8:g.99370018T>C | NCBI36 |