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:
177881
ClinVar RCV Id:
RCV000154530
RCV000424748
RCV000444370
RCV001004043
RCV002056053
RCV002408686
RCV002514970
dbSNP Id:
rs17851045
CIViC:
CA180922
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25227341T>G , CM000674.2:g.25227341T>G | GRCh38 |
| NC_000012.11:g.25380275T>G , CM000674.1:g.25380275T>G | GRCh37 |
| NC_000012.10:g.25271542T>G | NCBI36 |
| NG_007524.1:g.28580A>C | |
| NG_007524.2:g.28663A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557334.6:c.112-17430A>C | ENSP00000452512.1:n.112-17430A>C | |
| ENST00000685328.1:c.183A>C | ENSP00000508921.1:p.Gln61His | |
| ENST00000686877.1:c.*154A>C | ENSP00000510431.1:n.*154A>C | |
| ENST00000687356.1:c.112-1568A>C | ENSP00000510511.1:n.112-1568A>C | |
| ENST00000688228.1:n.657A>C | ||
| ENST00000688940.1:c.183A>C | ENSP00000509238.1:p.Gln61His | |
| ENST00000690804.1:c.*144A>C | ENSP00000508568.1:n.*144A>C | |
| ENST00000692768.1:c.-16A>C | ENSP00000510254.1:n.-16A>C | |
| ENST00000693229.1:c.112-4A>C | ENSP00000509223.1:n.112-4A>C | |
| ENST00000256078.10:c.183A>C MANE Plus Clinical | ENSP00000256078.5:p.Gln61His | |
| ENST00000311936.8:c.183A>C MANE Select | ENSP00000308495.3:p.Gln61His | |
| ENST00000256078.8:c.183A>C | ENSP00000256078.4:p.Gln61His | |
| ENST00000311936.7:c.183A>C | ENSP00000308495.3:p.Gln61His | |
| ENST00000557334.5:c.112-17430A>C | ENSP00000452512.1:n.112-17430A>C | |
| NM_004985.4:c.183A>C | NP_004976.2:p.Gln61His | |
| NM_033360.3:c.183A>C | NP_203524.1:p.Gln61His | |
| XM_006719069.2:c.183A>C | XP_006719132.1:p.Gln61His | |
| XM_011520653.1:c.183A>C | XP_011518955.1:p.Gln61His | |
| XM_006719069.4:c.183A>C | XP_006719132.1:p.Gln61His | |
| XM_011520653.3:c.183A>C | XP_011518955.1:p.Gln61His | |
| NM_001369786.1:c.183A>C | NP_001356715.1:p.Gln61His | |
| NM_001369787.1:c.183A>C | NP_001356716.1:p.Gln61His | |
| NM_004985.5:c.183A>C MANE Select | NP_004976.2:p.Gln61His | |
| NM_033360.4:c.183A>C MANE Plus Clinical | NP_203524.1:p.Gln61His |