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:
3801
ClinVar RCV Id:
RCV000004005
RCV000085920
RCV000602413
RCV002496250
RCV003325937
RCV003466803
RCV003944799
dbSNP Id:
rs104894317
ExAC:
11:89018092 G / A
gnomAD v2:
11-89018092-G-A
gnomAD v3:
11-89284924-G-A
gnomAD v4:
11-89284924-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284924G>A , CM000673.2:g.89284924G>A | GRCh38 |
| NC_000011.9:g.89018092G>A , CM000673.1:g.89018092G>A | GRCh37 |
| NC_000011.8:g.88657740G>A | NCBI36 |
| NG_008748.1:g.112053G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263321.6:c.1336G>A MANE Select | ENSP00000263321.4:p.Gly446Ser | |
| ENST00000263321.5:c.1336G>A | ENSP00000263321.4:p.Gly446Ser | |
| ENST00000528243.1:n.334G>A | ||
| NM_000372.4:c.1336G>A | NP_000363.1:p.Gly446Ser | |
| XM_011542970.1:c.1336G>A | XP_011541272.1:p.Gly446Ser | |
| XM_011542970.2:c.1336G>A | XP_011541272.1:p.Gly446Ser | |
| XR_001748321.1:n.2456+1110C>T | ||
| XR_001748322.1:n.2457+1110C>T | ||
| NM_000372.5:c.1336G>A MANE Select | NP_000363.1:p.Gly446Ser |