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:
223176
dbSNP Id:
rs864321643
COSMIC:
COSM144973
CIViC:
CA357072
PCER:
P-CER:CA357072/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142140A>G , CM000665.2:g.10142140A>G | GRCh38 |
| NC_000003.11:g.10183824A>G , CM000665.1:g.10183824A>G | GRCh37 |
| NC_000003.10:g.10158824A>G | NCBI36 |
| NG_008212.3:g.5506A>G , LRG_322:g.5506A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.293A>G | ENSP00000512434.1:p.Tyr98Cys | |
| ENST00000696143.1:c.293A>G | ENSP00000512435.1:p.Tyr98Cys | |
| ENST00000696153.1:c.293A>G | ENSP00000512444.1:p.Tyr98Cys | |
| ENST00000256474.3:c.293A>G MANE Select | ENSP00000256474.3:p.Tyr98Cys | |
| ENST00000256474.2:c.293A>G | ENSP00000256474.2:p.Tyr98Cys | |
| ENST00000345392.2:c.293A>G | ENSP00000344757.2:p.Tyr98Cys | |
| NM_000551.3:c.293A>G , LRG_322t1:c.293A>G | NP_000542.1:p.Tyr98Cys | |
| NM_198156.2:c.293A>G | NP_937799.1:p.Tyr98Cys | |
| XM_011534078.1:c.293A>G | XP_011532380.1:p.Tyr98Cys | |
| NM_001354723.1:c.293A>G | NP_001341652.1:p.Tyr98Cys | |
| NM_000551.4:c.293A>G MANE Select | NP_000542.1:p.Tyr98Cys | |
| NM_001354723.2:c.293A>G | NP_001341652.1:p.Tyr98Cys | |
| NM_198156.3:c.293A>G | NP_937799.1:p.Tyr98Cys |