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:
376288
ClinVar RCV Id:
RCV000445347
dbSNP Id:
rs113488022
COSMIC:
COSM18443
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753336A>G , CM000669.2:g.140753336A>G | GRCh38 |
| NC_000007.13:g.140453136A>G , CM000669.1:g.140453136A>G | GRCh37 |
| NC_000007.12:g.140099605A>G | NCBI36 |
| NG_007873.3:g.176429T>C , LRG_299:g.176429T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1799T>C MANE Select | ENSP00000493543.1:p.Val600Ala | |
| ENST00000288602.11:c.1919T>C | ENSP00000288602.7:p.Val640Ala | |
| ENST00000479537.6:c.469T>C | ||
| ENST00000496384.7:c.1799T>C | ENSP00000419060.2:p.Val600Ala | |
| ENST00000497784.2:c.*1249T>C | ENSP00000420119.2:n.*1249T>C | |
| ENST00000642228.1:c.*877T>C | ENSP00000493678.1:n.*877T>C | |
| ENST00000642875.1:n.1259-3918T>C | ||
| ENST00000644120.1:n.2189T>C | ||
| ENST00000644650.1:c.895T>C | ||
| ENST00000644905.1:n.2681T>C | ||
| ENST00000644969.2:c.1919T>C MANE Plus Clinical | ENSP00000496776.1:p.Val640Ala | |
| ENST00000646730.1:c.*375T>C | ENSP00000494784.1:n.*375T>C | |
| ENST00000646891.1:c.1799T>C | ENSP00000493543.1:p.Val600Ala | |
| ENST00000647434.1:c.738-3918T>C | ENSP00000495132.1:n.738-3918T>C | |
| ENST00000288602.10:c.1799T>C | ENSP00000288602.6:p.Val600Ala | |
| ENST00000479537.5:c.83T>C | ENSP00000418033.1:p.Val28Ala | |
| ENST00000496384.6:c.622T>C | ||
| ENST00000497784.1:c.1834T>C | ENSP00000420119.1:n.1834T>C | |
| NM_004333.4:c.1799T>C , LRG_299t1:c.1799T>C | NP_004324.2:p.Val600Ala | |
| XM_005250045.1:c.1799T>C | XP_005250102.1:p.Val600Ala | |
| XM_005250046.1:c.1799T>C | XP_005250103.1:p.Val600Ala | |
| XM_011516529.1:c.1799T>C | XP_011514831.1:p.Val600Ala | |
| XM_011516530.1:c.1695-3918T>C | XP_011514832.1:n.1695-3918T>C | |
| XR_242190.1:n.1807T>C | ||
| XR_927520.1:n.1807T>C | ||
| XR_927521.1:n.1807T>C | ||
| XR_927522.1:n.1703-3918T>C | ||
| XR_927523.1:n.1703-3918T>C | ||
| NM_001354609.1:c.1799T>C | NP_001341538.1:p.Val600Ala | |
| NM_004333.5:c.1799T>C | NP_004324.2:p.Val600Ala | |
| NR_148928.1:n.2897T>C | ||
| XM_017012558.1:c.1919T>C | XP_016868047.1:p.Val640Ala | |
| XM_017012559.1:c.1919T>C | XP_016868048.1:p.Val640Ala | |
| XR_001744857.1:n.1927T>C | ||
| XR_001744858.1:n.1823-3918T>C | ||
| NM_001354609.2:c.1799T>C | NP_001341538.1:p.Val600Ala | |
| NM_001374244.1:c.1919T>C | NP_001361173.1:p.Val640Ala | |
| NM_001374258.1:c.1919T>C MANE Plus Clinical | NP_001361187.1:p.Val640Ala | |
| NM_004333.6:c.1799T>C MANE Select | NP_004324.2:p.Val600Ala | |
| NM_001378467.1:c.1808T>C | NP_001365396.1:p.Val603Ala | |
| NM_001378468.1:c.1799T>C | NP_001365397.1:p.Val600Ala | |
| NM_001378469.1:c.1733T>C | NP_001365398.1:p.Val578Ala | |
| NM_001378470.1:c.1697T>C | NP_001365399.1:p.Val566Ala | |
| NM_001378471.1:c.1688T>C | NP_001365400.1:p.Val563Ala | |
| NM_001378472.1:c.1643T>C | NP_001365401.1:p.Val548Ala | |
| NM_001378473.1:c.1643T>C | NP_001365402.1:p.Val548Ala | |
| NM_001378474.1:c.1799T>C | NP_001365403.1:p.Val600Ala | |
| NM_001378475.1:c.1535T>C | NP_001365404.1:p.Val512Ala |