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:
1066145
ClinVar RCV Id:
RCV001377066
dbSNP Id:
rs869025667
CIViC:
CA351756548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149916T>A , CM000665.2:g.10149916T>A | GRCh38 |
| NC_000003.11:g.10191600T>A , CM000665.1:g.10191600T>A | GRCh37 |
| NC_000003.10:g.10166600T>A | NCBI36 |
| NG_008212.3:g.13282T>A , LRG_322:g.13282T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*270T>A | ENSP00000512434.1:n.*270T>A | |
| ENST00000696143.1:c.729T>A | ENSP00000512435.1:n.729T>A | |
| ENST00000696153.1:c.704T>A | ENSP00000512444.1:p.Leu235Gln | |
| ENST00000256474.3:c.593T>A MANE Select | ENSP00000256474.3:p.Leu198Gln | |
| ENST00000256474.2:c.593T>A | ENSP00000256474.2:p.Leu198Gln | |
| ENST00000345392.2:c.470T>A | ENSP00000344757.2:p.Leu157Gln | |
| ENST00000477538.1:n.729T>A | ||
| NM_000551.3:c.593T>A , LRG_322t1:c.593T>A | NP_000542.1:p.Leu198Gln | |
| NM_198156.2:c.470T>A | NP_937799.1:p.Leu157Gln | |
| NM_001354723.1:c.*147T>A | NP_001341652.1:n.*147T>A | |
| NM_000551.4:c.593T>A MANE Select | NP_000542.1:p.Leu198Gln | |
| NM_001354723.2:c.*147T>A | NP_001341652.1:n.*147T>A | |
| NM_198156.3:c.470T>A | NP_937799.1:p.Leu157Gln |