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:
190233
ClinVar RCV Id:
RCV000170455
dbSNP Id:
rs786205219
gnomAD v4:
8-22177929-A-G
PubMed:
PMID:25402547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22177929A>G , CM000670.2:g.22177929A>G | GRCh38 |
| NC_000008.10:g.22035442A>G , CM000670.1:g.22035442A>G | GRCh37 |
| NC_000008.9:g.22091387A>G | NCBI36 |
| NG_029659.1:g.17790A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306349.13:c.808A>G MANE Plus Clinical | ENSP00000306121.8:p.Met270Val | |
| ENST00000306385.10:c.808A>G MANE Select | ENSP00000305714.5:p.Met270Val | |
| ENST00000520626.6:c.*655A>G | ENSP00000430015.2:n.*655A>G | |
| ENST00000306349.12:c.808A>G | ENSP00000306121.8:p.Met270Val | |
| ENST00000306385.9:c.808A>G | ENSP00000305714.5:p.Met270Val | |
| ENST00000354870.5:c.*65A>G | ENSP00000346941.5:n.*65A>G | |
| ENST00000471755.5:c.808A>G | ENSP00000428665.1:p.Met270Val | |
| ENST00000483364.5:c.*65A>G | ENSP00000428249.1:n.*65A>G | |
| ENST00000518913.5:c.*275A>G | ENSP00000427950.1:n.*275A>G | |
| ENST00000520626.5:c.*655A>G | ENSP00000430015.1:n.*655A>G | |
| ENST00000520970.5:c.808A>G | ENSP00000428332.1:p.Met270Val | |
| ENST00000520982.5:c.*275A>G | ENSP00000428798.1:n.*275A>G | |
| ENST00000521385.5:c.808A>G | ENSP00000430406.1:p.Met270Val | |
| NM_001199.3:c.808A>G | NP_001190.1:p.Met270Val | |
| NM_006129.4:c.808A>G | NP_006120.1:p.Met270Val | |
| NR_033403.1:n.1111A>G | ||
| NR_033404.1:n.1111A>G | ||
| XM_006716386.2:c.808A>G | XP_006716449.2:p.Met270Val | |
| XM_011544617.1:c.808A>G | XP_011542919.1:p.Met270Val | |
| XR_428315.2:n.1074A>G | ||
| XR_949458.1:n.1074A>G | ||
| XM_006716386.3:c.808A>G | XP_006716449.2:p.Met270Val | |
| XM_011544617.2:c.808A>G | XP_011542919.1:p.Met270Val | |
| XM_017013738.2:c.808A>G | XP_016869227.1:p.Met270Val | |
| XR_001745579.2:n.1016A>G | ||
| XR_949458.2:n.1016A>G | ||
| NM_006129.5:c.808A>G MANE Select | NP_006120.1:p.Met270Val | |
| NM_001199.4:c.808A>G MANE Plus Clinical | NP_001190.1:p.Met270Val | |
| NR_033403.2:n.879A>G | ||
| NR_033404.2:n.879A>G |