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:
376881
ClinVar RCV Id:
RCV002314121
dbSNP Id:
rs56386767
gnomAD v3:
21-43417007-G-A
gnomAD v4:
21-43417007-G-A
COSMIC:
COSM4134967
MyVariant Identifiers:
chr21:g.43417007G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43417007G>A , CM000683.2:g.43417007G>A | GRCh38 |
| NG_052009.1:g.15126C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270162.8:c.2087C>T MANE Select | ENSP00000270162.6:p.Pro696Leu | |
| ENST00000270162.6:c.2087C>T | ENSP00000270162.6:p.Pro696Leu | |
| NM_173354.3:c.2087C>T | NP_775490.2:p.Pro696Leu | |
| XM_011529474.1:c.1940C>T | XP_011527776.1:p.Pro647Leu | |
| NM_173354.4:c.2087C>T | NP_775490.2:p.Pro696Leu | |
| XM_011529474.2:c.1940C>T | XP_011527776.1:p.Pro647Leu | |
| NM_173354.5:c.2087C>T MANE Select | NP_775490.2:p.Pro696Leu |