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:
193118
dbSNP Id:
rs794726890
COSMIC:
COSM14382
PCER:
P-CER:CA020159/193300
CIViC:
CA020159
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142092G>C , CM000665.2:g.10142092G>C | GRCh38 |
| NC_000003.11:g.10183776G>C , CM000665.1:g.10183776G>C | GRCh37 |
| NC_000003.10:g.10158776G>C | NCBI36 |
| NG_008212.3:g.5458G>C , LRG_322:g.5458G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.245G>C | ENSP00000512434.1:p.Arg82Pro | |
| ENST00000696143.1:c.245G>C | ENSP00000512435.1:p.Arg82Pro | |
| ENST00000696153.1:c.245G>C | ENSP00000512444.1:p.Arg82Pro | |
| ENST00000256474.3:c.245G>C MANE Select | ENSP00000256474.3:p.Arg82Pro | |
| ENST00000256474.2:c.245G>C | ENSP00000256474.2:p.Arg82Pro | |
| ENST00000345392.2:c.245G>C | ENSP00000344757.2:p.Arg82Pro | |
| NM_000551.3:c.245G>C , LRG_322t1:c.245G>C | NP_000542.1:p.Arg82Pro | |
| NM_198156.2:c.245G>C | NP_937799.1:p.Arg82Pro | |
| XM_011534078.1:c.245G>C | XP_011532380.1:p.Arg82Pro | |
| NM_001354723.1:c.245G>C | NP_001341652.1:p.Arg82Pro | |
| NM_000551.4:c.245G>C MANE Select | NP_000542.1:p.Arg82Pro | |
| NM_001354723.2:c.245G>C | NP_001341652.1:p.Arg82Pro | |
| NM_198156.3:c.245G>C | NP_937799.1:p.Arg82Pro |