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:
376181
ClinVar RCV Id:
RCV000423704
dbSNP Id:
rs1057519811
COSMIC:
COSM6438084
PubMed:
PMID:24132921
CIViC:
CA16602636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54274916C>T , CM000666.2:g.54274916C>T | GRCh38 |
| NC_000004.11:g.55141083C>T , CM000666.1:g.55141083C>T | GRCh37 |
| NC_000004.10:g.54835840C>T | NCBI36 |
| NG_009250.1:g.50820C>T , LRG_309:g.50820C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257290.10:c.1729C>T MANE Select | ENSP00000257290.5:p.Pro577Ser | |
| ENST00000257290.9:c.1729C>T | ENSP00000257290.5:p.Pro577Ser | |
| ENST00000507166.5:c.1018-9C>T | ENSP00000423325.1:n.1018-9C>T | |
| ENST00000509092.5:n.1547C>T | ||
| ENST00000509490.5:c.1729C>T | ENSP00000424218.1:p.Pro577Ser | |
| NM_006206.4:c.1729C>T , LRG_309t1:c.1729C>T | NP_006197.1:p.Pro577Ser | |
| XM_005265743.1:c.1729C>T | XP_005265800.1:p.Pro577Ser | |
| XM_006714039.2:c.1804C>T | XP_006714102.1:p.Pro602Ser | |
| XM_006714041.2:c.1804C>T | XP_006714104.1:p.Pro602Ser | |
| XM_011534385.1:c.1729C>T | XP_011532687.1:p.Pro577Ser | |
| XM_011534386.1:c.1729C>T | XP_011532688.1:p.Pro577Ser | |
| NM_001347827.1:c.1729C>T | NP_001334756.1:p.Pro577Ser | |
| NM_001347828.1:c.1804C>T | NP_001334757.1:p.Pro602Ser | |
| NM_001347829.1:c.1729C>T | NP_001334758.1:p.Pro577Ser | |
| NM_001347830.1:c.1768C>T | NP_001334759.1:p.Pro590Ser | |
| NM_006206.5:c.1729C>T | NP_006197.1:p.Pro577Ser | |
| XM_006714041.3:c.1804C>T | XP_006714104.1:p.Pro602Ser | |
| XM_017008281.1:c.1768C>T | XP_016863770.1:p.Pro590Ser | |
| NM_006206.6:c.1729C>T MANE Select | NP_006197.1:p.Pro577Ser | |
| NM_001347827.2:c.1729C>T | NP_001334756.1:p.Pro577Ser | |
| NM_001347828.2:c.1804C>T | NP_001334757.1:p.Pro602Ser | |
| NM_001347829.2:c.1729C>T | NP_001334758.1:p.Pro577Ser | |
| NM_001347830.2:c.1768C>T | NP_001334759.1:p.Pro590Ser |