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:
376047
ClinVar RCV Id:
RCV000417911
dbSNP Id:
rs5030807
COSMIC:
COSM14305
CIViC:
CA16602514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142113T>A , CM000665.2:g.10142113T>A | GRCh38 |
| NC_000003.11:g.10183797T>A , CM000665.1:g.10183797T>A | GRCh37 |
| NC_000003.10:g.10158797T>A | NCBI36 |
| NG_008212.3:g.5479T>A , LRG_322:g.5479T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.266T>A | ENSP00000512434.1:p.Leu89His | |
| ENST00000696143.1:c.266T>A | ENSP00000512435.1:p.Leu89His | |
| ENST00000696153.1:c.266T>A | ENSP00000512444.1:p.Leu89His | |
| ENST00000256474.3:c.266T>A MANE Select | ENSP00000256474.3:p.Leu89His | |
| ENST00000256474.2:c.266T>A | ENSP00000256474.2:p.Leu89His | |
| ENST00000345392.2:c.266T>A | ENSP00000344757.2:p.Leu89His | |
| NM_000551.3:c.266T>A , LRG_322t1:c.266T>A | NP_000542.1:p.Leu89His | |
| NM_198156.2:c.266T>A | NP_937799.1:p.Leu89His | |
| XM_011534078.1:c.266T>A | XP_011532380.1:p.Leu89His | |
| NM_001354723.1:c.266T>A | NP_001341652.1:p.Leu89His | |
| NM_000551.4:c.266T>A MANE Select | NP_000542.1:p.Leu89His | |
| NM_001354723.2:c.266T>A | NP_001341652.1:p.Leu89His | |
| NM_198156.3:c.266T>A | NP_937799.1:p.Leu89His |