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.
Linked Data
ClinVar Variation Id:
1248210
ClinVar RCV Id:
RCV001652044
dbSNP Id:
rs79155958
gnomAD v2:
18-9134357-C-T
gnomAD v3:
18-9134359-C-T
gnomAD v4:
18-9134359-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.9134359C>T , CM000680.2:g.9134359C>T | GRCh38 |
| NC_000018.9:g.9134357C>T , CM000680.1:g.9134357C>T | GRCh37 |
| NC_000018.8:g.9124357C>T | NCBI36 |
| NG_013355.1:g.36730C>T | |
| NG_047134.1:g.2607C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_110771.1:n.358-849G>A | ||
| NR_110772.1:n.358-849G>A |