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:
177884
ClinVar RCV Id:
RCV000154535
RCV000226551
RCV000244782
RCV000766359
RCV000769317
RCV002498741
RCV003937440
dbSNP Id:
rs727504378
ExAC:
11:47357493 C / T
gnomAD v2:
11-47357493-C-T
gnomAD v3:
11-47335942-C-T
gnomAD v4:
11-47335942-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335942C>T , CM000673.2:g.47335942C>T | GRCh38 |
| NC_000011.9:g.47357493C>T , CM000673.1:g.47357493C>T | GRCh37 |
| NC_000011.8:g.47314069C>T | NCBI36 |
| NG_007667.1:g.21761G>A , LRG_386:g.21761G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2672G>A MANE Select | ENSP00000442795.1:p.Arg891Gln | |
| ENST00000256993.8:c.2672G>A | ENSP00000256993.5:p.Arg891Gln | |
| ENST00000399249.6:c.2672G>A | ENSP00000382193.2:p.Arg891Gln | |
| ENST00000544791.1:c.*177G>A | ENSP00000444259.1:n.*177G>A | |
| ENST00000545968.5:c.2672G>A | ENSP00000442795.1:p.Arg891Gln | |
| NM_000256.3:c.2672G>A , LRG_386t1:c.2672G>A MANE Select | NP_000247.2:p.Arg891Gln | |
| XM_011520117.1:c.2654G>A | XP_011518419.1:p.Arg885Gln | |
| XM_011520118.1:c.2591G>A | XP_011518420.1:p.Arg864Gln |