Linked Data
ClinVar Variation Id:
1732864
ClinVar RCV Id:
RCV002455064
dbSNP Id:
rs1559428077
COSMIC:
COSM97146
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146530C>A , CM000665.2:g.10146530C>A | GRCh38 |
| NC_000003.11:g.10188214C>A , CM000665.1:g.10188214C>A | GRCh37 |
| NC_000003.10:g.10163214C>A | NCBI36 |
| NG_008212.3:g.9896C>A , LRG_322:g.9896C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*34C>A | ENSP00000512434.1:n.*34C>A | |
| ENST00000696143.1:c.600-3257C>A | ENSP00000512435.1:n.600-3257C>A | |
| ENST00000696153.1:c.357C>A | ENSP00000512444.1:p.Phe119Leu | |
| ENST00000256474.3:c.357C>A MANE Select | ENSP00000256474.3:p.Phe119Leu | |
| ENST00000256474.2:c.357C>A | ENSP00000256474.2:p.Phe119Leu | |
| ENST00000345392.2:c.341-3257C>A | ENSP00000344757.2:n.341-3257C>A | |
| ENST00000477538.1:n.493C>A | ||
| NM_000551.3:c.357C>A , LRG_322t1:c.357C>A | NP_000542.1:p.Phe119Leu | |
| NM_198156.2:c.341-3257C>A | NP_937799.1:n.341-3257C>A | |
| XM_011534078.1:c.*34C>A | XP_011532380.1:n.*34C>A | |
| NM_001354723.1:c.*18-3257C>A | NP_001341652.1:n.*18-3257C>A | |
| NM_000551.4:c.357C>A MANE Select | NP_000542.1:p.Phe119Leu | |
| NM_001354723.2:c.*18-3257C>A | NP_001341652.1:n.*18-3257C>A | |
| NM_198156.3:c.341-3257C>A | NP_937799.1:n.341-3257C>A |