UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
225766
ClinVar RCV Id:
RCV000211052
dbSNP Id:
rs875989787
PubMed:
PMID:27153400
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65206793C>T , CM000673.2:g.65206793C>T | GRCh38 |
| NC_000011.9:g.64974264C>T , CM000673.1:g.64974264C>T | GRCh37 |
| NC_000011.8:g.64730840C>T | NCBI36 |
| NG_052817.1:g.30579C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000279247.11:c.1579C>T MANE Select | ENSP00000279247.7:p.Gln527Ter | |
| ENST00000279247.10:c.1579C>T | ENSP00000279247.6:p.Gln527Ter | |
| ENST00000524773.5:c.1579C>T | ENSP00000434176.1:p.Gln527Ter | |
| ENST00000525013.1:n.432C>T | ||
| ENST00000527323.5:c.1579C>T | ENSP00000431984.1:p.Gln527Ter | |
| ENST00000533129.5:c.1579C>T | ENSP00000431686.1:p.Gln527Ter | |
| ENST00000533820.5:c.1579C>T | ENSP00000435272.1:p.Gln527Ter | |
| NM_001198868.1:c.1579C>T | NP_001185797.1:p.Gln527Ter | |
| NM_001198869.1:c.1579C>T | NP_001185798.1:p.Gln527Ter | |
| NM_005186.3:c.1579C>T | NP_005177.2:p.Gln527Ter | |
| NR_040008.1:n.1691C>T | ||
| XM_006718698.1:c.1579C>T | XP_006718761.1:p.Gln527Ter | |
| XM_011545292.1:c.1579C>T | XP_011543594.1:p.Gln527Ter | |
| XM_006718698.2:c.1579C>T | XP_006718761.1:p.Gln527Ter | |
| NM_001198868.2:c.1579C>T | NP_001185797.1:p.Gln527Ter | |
| NM_005186.4:c.1579C>T MANE Select | NP_005177.2:p.Gln527Ter | |
| NR_040008.2:n.1596C>T | ||
| NM_001198869.2:c.1579C>T | NP_001185798.1:p.Gln527Ter |