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:
13860
dbSNP Id:
rs121913506
COSMIC:
COSM1310
PubMed:
PMID:7513208
PMID:9657776
PMID:15790786
PMID:16731599
PMID:16741525
PMID:19164557
PMID:23714533
PMID:25157968
CIViC:
CA280196
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54733154G>T , CM000666.2:g.54733154G>T | GRCh38 |
| NC_000004.11:g.55599320G>T , CM000666.1:g.55599320G>T | GRCh37 |
| NC_000004.10:g.55294077G>T | NCBI36 |
| NG_007456.1:g.80160G>T , LRG_307:g.80160G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.2434G>T | ENSP00000390987.3:p.Asp812Tyr | |
| ENST00000685269.1:n.2524G>T | ||
| ENST00000686011.1:c.2431G>T | ENSP00000509704.1:p.Asp811Tyr | |
| ENST00000687109.1:c.2449G>T | ENSP00000509371.1:p.Asp817Tyr | |
| ENST00000687208.1:n.2858G>T | ||
| ENST00000687246.1:c.2349+1156G>T | ENSP00000509114.1:n.2349+1156G>T | |
| ENST00000687265.1:n.2604G>T | ||
| ENST00000687295.1:c.2434G>T | ENSP00000509450.1:p.Asp812Tyr | |
| ENST00000688060.1:n.243G>T | ||
| ENST00000688704.1:n.1458G>T | ||
| ENST00000689832.1:c.2446G>T | ENSP00000509084.1:p.Asp816Tyr | |
| ENST00000689994.1:c.1936G>T | ENSP00000509156.1:p.Asp646Tyr | |
| ENST00000690543.1:c.2437G>T | ENSP00000508831.1:p.Asp813Tyr | |
| ENST00000690917.1:n.2664G>T | ||
| ENST00000691361.1:n.1356G>T | ||
| ENST00000692783.1:c.2443G>T | ENSP00000508733.1:p.Asp815Tyr | |
| ENST00000692991.1:n.2543G>T | ||
| ENST00000288135.6:c.2446G>T MANE Select | ENSP00000288135.6:p.Asp816Tyr | |
| ENST00000288135.5:c.2446G>T | ENSP00000288135.5:p.Asp816Tyr | |
| ENST00000412167.6:c.2434G>T | ENSP00000390987.2:p.Asp812Tyr | |
| ENST00000512959.1:n.499G>T | ||
| NM_000222.2:c.2446G>T , LRG_307t1:c.2446G>T | NP_000213.1:p.Asp816Tyr | |
| NM_001093772.1:c.2434G>T | NP_001087241.1:p.Asp812Tyr | |
| XM_005265740.1:c.2449G>T | XP_005265797.1:p.Asp817Tyr | |
| XM_005265741.1:c.2446G>T | XP_005265798.1:p.Asp816Tyr | |
| XM_005265742.1:c.2437G>T | XP_005265799.1:p.Asp813Tyr | |
| XM_005265742.3:c.2437G>T | XP_005265799.1:p.Asp813Tyr | |
| XM_017008178.1:c.2443G>T | XP_016863667.1:p.Asp815Tyr | |
| XM_017008179.1:c.2434G>T | XP_016863668.1:p.Asp812Tyr | |
| XM_017008180.1:c.2431G>T | XP_016863669.1:p.Asp811Tyr | |
| NM_000222.3:c.2446G>T MANE Select | NP_000213.1:p.Asp816Tyr | |
| NM_001093772.2:c.2434G>T | NP_001087241.1:p.Asp812Tyr | |
| NM_001385284.1:c.2449G>T | NP_001372213.1:p.Asp817Tyr | |
| NM_001385285.1:c.2443G>T | NP_001372214.1:p.Asp815Tyr | |
| NM_001385286.1:c.2431G>T | NP_001372215.1:p.Asp811Tyr | |
| NM_001385288.1:c.2437G>T | NP_001372217.1:p.Asp813Tyr | |
| NM_001385290.1:c.2446G>T | NP_001372219.1:p.Asp816Tyr | |
| NM_001385292.1:c.2434G>T | NP_001372221.1:p.Asp812Tyr |