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:
376359
ClinVar RCV Id:
RCV000438832
dbSNP Id:
rs1057519872
CIViC:
CA16602799
PubMed:
PMID:26466009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179210438C>T , CM000665.2:g.179210438C>T | GRCh38 |
| NC_000003.11:g.178928226C>T , CM000665.1:g.178928226C>T | GRCh37 |
| NC_000003.10:g.180410920C>T | NCBI36 |
| NG_012113.2:g.66916C>T , LRG_310:g.66916C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263967.4:c.1412C>T MANE Select | ENSP00000263967.3:p.Pro471Leu | |
| ENST00000643187.1:c.1412C>T | ENSP00000493507.1:p.Pro471Leu | |
| ENST00000674534.1:n.1166C>T | ||
| ENST00000675467.1:n.4219C>T | ||
| ENST00000675786.1:c.1431C>T | ENSP00000502323.1:p.Ser477= | |
| ENST00000263967.3:c.1412C>T | ENSP00000263967.3:p.Pro471Leu | |
| NM_006218.2:c.1412C>T , LRG_310t1:c.1412C>T | NP_006209.2:p.Pro471Leu | |
| XM_006713658.2:c.1412C>T | XP_006713721.1:p.Pro471Leu | |
| XM_011512894.1:c.1412C>T | XP_011511196.1:p.Pro471Leu | |
| NM_006218.3:c.1412C>T | NP_006209.2:p.Pro471Leu | |
| XM_006713658.4:c.1412C>T | XP_006713721.1:p.Pro471Leu | |
| XM_011512894.2:c.1412C>T | XP_011511196.1:p.Pro471Leu | |
| NM_006218.4:c.1412C>T MANE Select | NP_006209.2:p.Pro471Leu |