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:
40367
dbSNP Id:
rs121913376
COSMIC:
COSM24642
PubMed:
PMID:25157968
ERepo:
CA281968/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140781597C>A , CM000669.2:g.140781597C>A | GRCh38 |
| NC_000007.13:g.140481397C>A , CM000669.1:g.140481397C>A | GRCh37 |
| NC_000007.12:g.140127866C>A | NCBI36 |
| NG_007873.3:g.148168G>T , LRG_299:g.148168G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1411G>T MANE Select | ENSP00000493543.1:p.Val471Phe | |
| ENST00000288602.11:c.1531G>T | ENSP00000288602.7:p.Val511Phe | |
| ENST00000479537.6:c.81G>T | ||
| ENST00000496384.7:c.1411G>T | ENSP00000419060.2:p.Val471Phe | |
| ENST00000497784.2:c.*861G>T | ENSP00000420119.2:n.*861G>T | |
| ENST00000642228.1:c.*489G>T | ENSP00000493678.1:n.*489G>T | |
| ENST00000642875.1:n.853G>T | ||
| ENST00000644120.1:n.1801G>T | ||
| ENST00000644650.1:c.507G>T | ||
| ENST00000644905.1:n.1500G>T | ||
| ENST00000644969.2:c.1531G>T MANE Plus Clinical | ENSP00000496776.1:p.Val511Phe | |
| ENST00000646334.1:n.541G>T | ||
| ENST00000646730.1:c.1411G>T | ENSP00000494784.1:p.Val471Phe | |
| ENST00000646891.1:c.1411G>T | ENSP00000493543.1:p.Val471Phe | |
| ENST00000647434.1:c.454G>T | ENSP00000495132.1:p.Val152Phe | |
| ENST00000288602.10:c.1411G>T | ENSP00000288602.6:p.Val471Phe | |
| ENST00000496384.6:c.234G>T | ||
| ENST00000497784.1:c.1446G>T | ENSP00000420119.1:n.1446G>T | |
| NM_004333.4:c.1411G>T , LRG_299t1:c.1411G>T | NP_004324.2:p.Val471Phe | |
| XM_005250045.1:c.1411G>T | XP_005250102.1:p.Val471Phe | |
| XM_005250046.1:c.1411G>T | XP_005250103.1:p.Val471Phe | |
| XM_011516529.1:c.1411G>T | XP_011514831.1:p.Val471Phe | |
| XM_011516530.1:c.1411G>T | XP_011514832.1:p.Val471Phe | |
| XR_242190.1:n.1419G>T | ||
| XR_927520.1:n.1419G>T | ||
| XR_927521.1:n.1419G>T | ||
| XR_927522.1:n.1419G>T | ||
| XR_927523.1:n.1419G>T | ||
| NM_001354609.1:c.1411G>T | NP_001341538.1:p.Val471Phe | |
| NM_004333.5:c.1411G>T | NP_004324.2:p.Val471Phe | |
| NR_148928.1:n.1716G>T | ||
| XM_017012558.1:c.1531G>T | XP_016868047.1:p.Val511Phe | |
| XM_017012559.1:c.1531G>T | XP_016868048.1:p.Val511Phe | |
| XR_001744857.1:n.1539G>T | ||
| XR_001744858.1:n.1539G>T | ||
| NM_001354609.2:c.1411G>T | NP_001341538.1:p.Val471Phe | |
| NM_001374244.1:c.1531G>T | NP_001361173.1:p.Val511Phe | |
| NM_001374258.1:c.1531G>T MANE Plus Clinical | NP_001361187.1:p.Val511Phe | |
| NM_004333.6:c.1411G>T MANE Select | NP_004324.2:p.Val471Phe | |
| NM_001378467.1:c.1420G>T | NP_001365396.1:p.Val474Phe | |
| NM_001378468.1:c.1411G>T | NP_001365397.1:p.Val471Phe | |
| NM_001378469.1:c.1345G>T | NP_001365398.1:p.Val449Phe | |
| NM_001378470.1:c.1309G>T | NP_001365399.1:p.Val437Phe | |
| NM_001378471.1:c.1300G>T | NP_001365400.1:p.Val434Phe | |
| NM_001378472.1:c.1255G>T | NP_001365401.1:p.Val419Phe | |
| NM_001378473.1:c.1255G>T | NP_001365402.1:p.Val419Phe | |
| NM_001378474.1:c.1411G>T | NP_001365403.1:p.Val471Phe | |
| NM_001378475.1:c.1147G>T | NP_001365404.1:p.Val383Phe |