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:
13852
ClinVar RCV Id:
RCV000014864
RCV000431704
RCV000443179
RCV000444150
RCV000505554
RCV000656673
RCV000656674
RCV000656675
RCV000656676
dbSNP Id:
rs121913507
gnomAD v2:
4-55599321-A-T
gnomAD v4:
4-54733155-A-T
COSMIC:
COSM1314
CIViC:
CA123513
PubMed:
PMID:7479840
PMID:7691885
PMID:8589724
PMID:9827716
PMID:9990072
PMID:11380399
PMID:11493470
PMID:15972446
PMID:16384925
PMID:16731599
PMID:16912224
PMID:17259998
PMID:18024392
PMID:18986703
PMID:19164557
PMID:21689725
PMID:22504184
PMID:23582185
PMID:23714533
PMID:24045550
PMID:25157968
PMID:26822237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54733155A>T , CM000666.2:g.54733155A>T | GRCh38 |
| NC_000004.11:g.55599321A>T , CM000666.1:g.55599321A>T | GRCh37 |
| NC_000004.10:g.55294078A>T | NCBI36 |
| NG_007456.1:g.80161A>T , LRG_307:g.80161A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.2435A>T | ENSP00000390987.3:p.Asp812Val | |
| ENST00000685269.1:n.2525A>T | ||
| ENST00000686011.1:c.2432A>T | ENSP00000509704.1:p.Asp811Val | |
| ENST00000687109.1:c.2450A>T | ENSP00000509371.1:p.Asp817Val | |
| ENST00000687208.1:n.2859A>T | ||
| ENST00000687246.1:c.2349+1157A>T | ENSP00000509114.1:n.2349+1157A>T | |
| ENST00000687265.1:n.2605A>T | ||
| ENST00000687295.1:c.2435A>T | ENSP00000509450.1:p.Asp812Val | |
| ENST00000688060.1:n.244A>T | ||
| ENST00000688704.1:n.1459A>T | ||
| ENST00000689832.1:c.2447A>T | ENSP00000509084.1:p.Asp816Val | |
| ENST00000689994.1:c.1937A>T | ENSP00000509156.1:p.Asp646Val | |
| ENST00000690543.1:c.2438A>T | ENSP00000508831.1:p.Asp813Val | |
| ENST00000690917.1:n.2665A>T | ||
| ENST00000691361.1:n.1357A>T | ||
| ENST00000692783.1:c.2444A>T | ENSP00000508733.1:p.Asp815Val | |
| ENST00000692991.1:n.2544A>T | ||
| ENST00000288135.6:c.2447A>T MANE Select | ENSP00000288135.6:p.Asp816Val | |
| ENST00000288135.5:c.2447A>T | ENSP00000288135.5:p.Asp816Val | |
| ENST00000412167.6:c.2435A>T | ENSP00000390987.2:p.Asp812Val | |
| ENST00000512959.1:n.500A>T | ||
| NM_000222.2:c.2447A>T , LRG_307t1:c.2447A>T | NP_000213.1:p.Asp816Val | |
| NM_001093772.1:c.2435A>T | NP_001087241.1:p.Asp812Val | |
| XM_005265740.1:c.2450A>T | XP_005265797.1:p.Asp817Val | |
| XM_005265741.1:c.2447A>T | XP_005265798.1:p.Asp816Val | |
| XM_005265742.1:c.2438A>T | XP_005265799.1:p.Asp813Val | |
| XM_005265742.3:c.2438A>T | XP_005265799.1:p.Asp813Val | |
| XM_017008178.1:c.2444A>T | XP_016863667.1:p.Asp815Val | |
| XM_017008179.1:c.2435A>T | XP_016863668.1:p.Asp812Val | |
| XM_017008180.1:c.2432A>T | XP_016863669.1:p.Asp811Val | |
| NM_000222.3:c.2447A>T MANE Select | NP_000213.1:p.Asp816Val | |
| NM_001093772.2:c.2435A>T | NP_001087241.1:p.Asp812Val | |
| NM_001385284.1:c.2450A>T | NP_001372213.1:p.Asp817Val | |
| NM_001385285.1:c.2444A>T | NP_001372214.1:p.Asp815Val | |
| NM_001385286.1:c.2432A>T | NP_001372215.1:p.Asp811Val | |
| NM_001385288.1:c.2438A>T | NP_001372217.1:p.Asp813Val | |
| NM_001385290.1:c.2447A>T | NP_001372219.1:p.Asp816Val | |
| NM_001385292.1:c.2435A>T | NP_001372221.1:p.Asp812Val |