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:
772260
ClinVar RCV Id:
RCV000951771
RCV001124962
RCV001125938
RCV001125939
RCV001514154
RCV002336998
RCV003970729
dbSNP Id:
rs41317351
ExAC:
17:48276596 G / A
gnomAD v2:
17-48276596-G-A
gnomAD v3:
17-50199235-G-A
gnomAD v4:
17-50199235-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199235G>A , CM000679.2:g.50199235G>A | GRCh38 |
| NC_000017.10:g.48276596G>A , CM000679.1:g.48276596G>A | GRCh37 |
| NC_000017.9:g.45631595G>A | NCBI36 |
| NG_007400.1:g.7405C>T , LRG_1:g.7405C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.462C>T MANE Select | ENSP00000225964.6:p.Gly154= | |
| ENST00000225964.9:c.462C>T | ENSP00000225964.5:p.Gly154= | |
| NM_000088.3:c.462C>T , LRG_1t1:c.462C>T | NP_000079.2:p.Gly154= | |
| XM_005257058.3:c.462C>T | XP_005257115.2:p.Gly154= | |
| XM_005257059.3:c.462C>T | XP_005257116.2:p.Gly154= | |
| XM_011524341.1:c.462C>T | XP_011522643.1:p.Gly154= | |
| XM_005257058.4:c.462C>T | XP_005257115.2:p.Gly154= | |
| XM_005257059.4:c.462C>T | XP_005257116.2:p.Gly154= | |
| NM_000088.4:c.462C>T MANE Select | NP_000079.2:p.Gly154= |