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:
583094
ClinVar RCV Id:
RCV003353002
dbSNP Id:
rs869025636
COSMIC:
COSM14384
PCER:
P-CER:CA351751372/193300
CIViC:
CA351751372
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142187G>A , CM000665.2:g.10142187G>A | GRCh38 |
| NC_000003.11:g.10183871G>A , CM000665.1:g.10183871G>A | GRCh37 |
| NC_000003.10:g.10158871G>A | NCBI36 |
| NG_008212.3:g.5553G>A , LRG_322:g.5553G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.340G>A | ENSP00000512434.1:p.Val114Ile | |
| ENST00000696143.1:c.340G>A | ENSP00000512435.1:p.Val114Ile | |
| ENST00000696153.1:c.340G>A | ENSP00000512444.1:p.Gly114Ser | |
| ENST00000256474.3:c.340G>A MANE Select | ENSP00000256474.3:p.Gly114Ser | |
| ENST00000256474.2:c.340G>A | ENSP00000256474.2:p.Gly114Ser | |
| ENST00000345392.2:c.340G>A | ENSP00000344757.2:p.Val114Met | |
| NM_000551.3:c.340G>A , LRG_322t1:c.340G>A | NP_000542.1:p.Gly114Ser | |
| NM_198156.2:c.340G>A | NP_937799.1:p.Val114Met | |
| XM_011534078.1:c.340G>A | XP_011532380.1:p.Val114Ile | |
| NM_001354723.1:c.340G>A | NP_001341652.1:p.Val114Ile | |
| NM_000551.4:c.340G>A MANE Select | NP_000542.1:p.Gly114Ser | |
| NM_001354723.2:c.340G>A | NP_001341652.1:p.Val114Ile | |
| NM_198156.3:c.340G>A | NP_937799.1:p.Val114Met |