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:
496055
ClinVar RCV Id:
RCV000589007
dbSNP Id:
rs1553619461
COSMIC:
COSM18064
PCER:
P-CER:CA351751116/193300
CIViC:
CA351751116
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142160A>C , CM000665.2:g.10142160A>C | GRCh38 |
| NC_000003.11:g.10183844A>C , CM000665.1:g.10183844A>C | GRCh37 |
| NC_000003.10:g.10158844A>C | NCBI36 |
| NG_008212.3:g.5526A>C , LRG_322:g.5526A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.313A>C | ENSP00000512434.1:p.Thr105Pro | |
| ENST00000696143.1:c.313A>C | ENSP00000512435.1:p.Thr105Pro | |
| ENST00000696153.1:c.313A>C | ENSP00000512444.1:p.Thr105Pro | |
| ENST00000256474.3:c.313A>C MANE Select | ENSP00000256474.3:p.Thr105Pro | |
| ENST00000256474.2:c.313A>C | ENSP00000256474.2:p.Thr105Pro | |
| ENST00000345392.2:c.313A>C | ENSP00000344757.2:p.Thr105Pro | |
| NM_000551.3:c.313A>C , LRG_322t1:c.313A>C | NP_000542.1:p.Thr105Pro | |
| NM_198156.2:c.313A>C | NP_937799.1:p.Thr105Pro | |
| XM_011534078.1:c.313A>C | XP_011532380.1:p.Thr105Pro | |
| NM_001354723.1:c.313A>C | NP_001341652.1:p.Thr105Pro | |
| NM_000551.4:c.313A>C MANE Select | NP_000542.1:p.Thr105Pro | |
| NM_001354723.2:c.313A>C | NP_001341652.1:p.Thr105Pro | |
| NM_198156.3:c.313A>C | NP_937799.1:p.Thr105Pro |