WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs1383352007
gnomAD v3:
8-86739718-C-G
gnomAD v4:
8-86739718-C-G
COSMIC:
COSM5346368
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739718C>G , CM000670.2:g.86739718C>G | GRCh38 |
| NC_000008.10:g.87751946C>G , CM000670.1:g.87751946C>G | GRCh37 |
| NC_000008.9:g.87821062C>G | NCBI36 |
| NG_016980.1:g.8958G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.148G>C MANE Select | ENSP00000316605.5:p.Glu50Gln | |
| ENST00000681746.1:c.148G>C | ENSP00000505959.1:p.Glu50Gln | |
| ENST00000320005.5:c.148G>C | ENSP00000316605.5:p.Glu50Gln | |
| ENST00000519777.1:n.130G>C | ||
| NM_019098.4:c.148G>C | NP_061971.3:p.Glu50Gln | |
| NM_019098.5:c.148G>C MANE Select | NP_061971.3:p.Glu50Gln |