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:
CA649027412
Gene:
Linked Data
dbSNP Id:
rs1578880314
gnomAD v3:
4-74554035-T-C
gnomAD v4:
4-74554035-T-C
COSMIC:
COSN6843386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.74554035T>C , CM000666.2:g.74554035T>C | GRCh38 |
| NC_000004.11:g.75419752T>C , CM000666.1:g.75419752T>C | GRCh37 |
| NC_000004.10:g.75638616T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741513.1:n.167-1203A>G |