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:
5900
ClinVar RCV Id:
RCV000006260
RCV000020271
RCV000516392
RCV001004616
RCV002496281
RCV003162214
RCV003335017
dbSNP Id:
rs80338958
ExAC:
17:62022974 C / T
gnomAD v2:
17-62022974-C-T
gnomAD v3:
17-63945614-C-T
gnomAD v4:
17-63945614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63945614C>T , CM000679.2:g.63945614C>T | GRCh38 |
| NC_000017.10:g.62022974C>T , CM000679.1:g.62022974C>T | GRCh37 |
| NC_000017.9:g.59376706C>T | NCBI36 |
| NG_011699.1:g.32305G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435607.3:c.3466G>A MANE Select | ENSP00000396320.1:p.Ala1156Thr | |
| ENST00000578147.5:c.3466G>A | ENSP00000463963.1:p.Ala1156Thr | |
| NM_000334.4:c.3466G>A MANE Select | NP_000325.4:p.Ala1156Thr | |
| XM_005257566.3:c.3466G>A | XP_005257623.1:p.Ala1156Thr |