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
ClinVar Variation Id:
65692
ClinVar RCV Id:
RCV000055918
dbSNP Id:
rs397515558
COSMIC:
COSM1117460
PubMed:
PMID:20301745
ERepo:
CA345034/MONDO:0010305/027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694753C>T , CM000685.2:g.153694753C>T | GRCh38 |
| NC_000023.10:g.152960208C>T , CM000685.1:g.152960208C>T | GRCh37 |
| NC_000023.9:g.152613402C>T | NCBI36 |
| NG_012016.1:g.11457C>T | |
| NG_012016.2:g.11457C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253122.10:c.1631C>T MANE Select | ENSP00000253122.5:p.Pro544Leu | |
| ENST00000253122.9:c.1631C>T | ENSP00000253122.5:p.Pro544Leu | |
| ENST00000430077.6:c.1286C>T | ENSP00000403041.2:p.Pro429Leu | |
| ENST00000485324.1:n.1938C>T | ||
| NM_001142805.1:c.1601C>T | NP_001136277.1:p.Pro534Leu | |
| NM_001142806.1:c.1286C>T | NP_001136278.1:p.Pro429Leu | |
| NM_005629.3:c.1631C>T | NP_005620.1:p.Pro544Leu | |
| NM_005629.4:c.1631C>T MANE Select | NP_005620.1:p.Pro544Leu | |
| NM_001142805.2:c.1601C>T | NP_001136277.1:p.Pro534Leu |