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:
376732
ClinVar RCV Id:
RCV000417409
dbSNP Id:
rs121913235
COSMIC:
COSM1221
PubMed:
PMID:16731599
CIViC:
CA16603140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54727437T>G , CM000666.2:g.54727437T>G | GRCh38 |
| NC_000004.11:g.55593603T>G , CM000666.1:g.55593603T>G | GRCh37 |
| NC_000004.10:g.55288360T>G | NCBI36 |
| NG_007456.1:g.74443T>G , LRG_307:g.74443T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.1660T>G | ENSP00000390987.3:p.Trp554Gly | |
| ENST00000685269.1:n.1747T>G | ||
| ENST00000686011.1:c.1657T>G | ENSP00000509704.1:p.Trp553Gly | |
| ENST00000687109.1:c.1672T>G | ENSP00000509371.1:p.Trp558Gly | |
| ENST00000687208.1:n.2084T>G | ||
| ENST00000687246.1:c.1657T>G | ENSP00000509114.1:p.Trp553Gly | |
| ENST00000687265.1:n.1827T>G | ||
| ENST00000687295.1:c.1657T>G | ENSP00000509450.1:p.Trp553Gly | |
| ENST00000689832.1:c.1672T>G | ENSP00000509084.1:p.Trp558Gly | |
| ENST00000689994.1:c.1159T>G | ENSP00000509156.1:p.Trp387Gly | |
| ENST00000690543.1:c.1660T>G | ENSP00000508831.1:p.Trp554Gly | |
| ENST00000690917.1:n.1887T>G | ||
| ENST00000691361.1:n.579T>G | ||
| ENST00000692783.1:c.1669T>G | ENSP00000508733.1:p.Trp557Gly | |
| ENST00000692991.1:n.1766T>G | ||
| ENST00000288135.6:c.1669T>G MANE Select | ENSP00000288135.6:p.Trp557Gly | |
| ENST00000288135.5:c.1669T>G | ENSP00000288135.5:p.Trp557Gly | |
| ENST00000412167.6:c.1657T>G | ENSP00000390987.2:p.Trp553Gly | |
| NM_000222.2:c.1669T>G , LRG_307t1:c.1669T>G | NP_000213.1:p.Trp557Gly | |
| NM_001093772.1:c.1657T>G | NP_001087241.1:p.Trp553Gly | |
| XM_005265740.1:c.1672T>G | XP_005265797.1:p.Trp558Gly | |
| XM_005265741.1:c.1672T>G | XP_005265798.1:p.Trp558Gly | |
| XM_005265742.1:c.1660T>G | XP_005265799.1:p.Trp554Gly | |
| XM_005265742.3:c.1660T>G | XP_005265799.1:p.Trp554Gly | |
| XM_017008178.1:c.1669T>G | XP_016863667.1:p.Trp557Gly | |
| XM_017008179.1:c.1660T>G | XP_016863668.1:p.Trp554Gly | |
| XM_017008180.1:c.1657T>G | XP_016863669.1:p.Trp553Gly | |
| NM_000222.3:c.1669T>G MANE Select | NP_000213.1:p.Trp557Gly | |
| NM_001093772.2:c.1657T>G | NP_001087241.1:p.Trp553Gly | |
| NM_001385284.1:c.1672T>G | NP_001372213.1:p.Trp558Gly | |
| NM_001385285.1:c.1669T>G | NP_001372214.1:p.Trp557Gly | |
| NM_001385286.1:c.1657T>G | NP_001372215.1:p.Trp553Gly | |
| NM_001385288.1:c.1660T>G | NP_001372217.1:p.Trp554Gly | |
| NM_001385290.1:c.1672T>G | NP_001372219.1:p.Trp558Gly | |
| NM_001385292.1:c.1660T>G | NP_001372221.1:p.Trp554Gly |