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:
825515
ClinVar RCV Id:
RCV001023675
dbSNP Id:
rs1575932228
COSMIC:
COSM97152
CIViC:
CA351756213
PCER:
P-CER:CA351756213/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149840G>T , CM000665.2:g.10149840G>T | GRCh38 |
| NC_000003.11:g.10191524G>T , CM000665.1:g.10191524G>T | GRCh37 |
| NC_000003.10:g.10166524G>T | NCBI36 |
| NG_008212.3:g.13206G>T , LRG_322:g.13206G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*194G>T | ENSP00000512434.1:n.*194G>T | |
| ENST00000696143.1:c.653G>T | ENSP00000512435.1:n.653G>T | |
| ENST00000696153.1:c.628G>T | ENSP00000512444.1:p.Glu210Ter | |
| ENST00000256474.3:c.517G>T MANE Select | ENSP00000256474.3:p.Glu173Ter | |
| ENST00000256474.2:c.517G>T | ENSP00000256474.2:p.Glu173Ter | |
| ENST00000345392.2:c.394G>T | ENSP00000344757.2:p.Glu132Ter | |
| ENST00000477538.1:n.653G>T | ||
| NM_000551.3:c.517G>T , LRG_322t1:c.517G>T | NP_000542.1:p.Glu173Ter | |
| NM_198156.2:c.394G>T | NP_937799.1:p.Glu132Ter | |
| NM_001354723.1:c.*71G>T | NP_001341652.1:n.*71G>T | |
| NM_000551.4:c.517G>T MANE Select | NP_000542.1:p.Glu173Ter | |
| NM_001354723.2:c.*71G>T | NP_001341652.1:n.*71G>T | |
| NM_198156.3:c.394G>T | NP_937799.1:p.Glu132Ter |