Linked Data
ClinVar Variation Id:
428808
ClinVar RCV Id:
RCV000492347
dbSNP Id:
rs1131690961
COSMIC:
COSM479174
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146570A>C , CM000665.2:g.10146570A>C | GRCh38 |
| NC_000003.11:g.10188254A>C , CM000665.1:g.10188254A>C | GRCh37 |
| NC_000003.10:g.10163254A>C | NCBI36 |
| NG_008212.3:g.9936A>C , LRG_322:g.9936A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*74A>C | ENSP00000512434.1:n.*74A>C | |
| ENST00000696143.1:c.600-3217A>C | ENSP00000512435.1:n.600-3217A>C | |
| ENST00000696153.1:c.397A>C | ENSP00000512444.1:p.Thr133Pro | |
| ENST00000256474.3:c.397A>C MANE Select | ENSP00000256474.3:p.Thr133Pro | |
| ENST00000256474.2:c.397A>C | ENSP00000256474.2:p.Thr133Pro | |
| ENST00000345392.2:c.341-3217A>C | ENSP00000344757.2:n.341-3217A>C | |
| ENST00000477538.1:n.533A>C | ||
| NM_000551.3:c.397A>C , LRG_322t1:c.397A>C | NP_000542.1:p.Thr133Pro | |
| NM_198156.2:c.341-3217A>C | NP_937799.1:n.341-3217A>C | |
| XM_011534078.1:c.*74A>C | XP_011532380.1:n.*74A>C | |
| NM_001354723.1:c.*18-3217A>C | NP_001341652.1:n.*18-3217A>C | |
| NM_000551.4:c.397A>C MANE Select | NP_000542.1:p.Thr133Pro | |
| NM_001354723.2:c.*18-3217A>C | NP_001341652.1:n.*18-3217A>C | |
| NM_198156.3:c.341-3217A>C | NP_937799.1:n.341-3217A>C |