Linked Data
ClinVar Variation Id:
1326283
ClinVar RCV Id:
RCV001786527
dbSNP Id:
rs2125130793
COSMIC:
COSM1232271
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149925T>C , CM000665.2:g.10149925T>C | GRCh38 |
| NC_000003.11:g.10191609T>C , CM000665.1:g.10191609T>C | GRCh37 |
| NC_000003.10:g.10166609T>C | NCBI36 |
| NG_008212.3:g.13291T>C , LRG_322:g.13291T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*279T>C | ENSP00000512434.1:n.*279T>C | |
| ENST00000696143.1:c.738T>C | ENSP00000512435.1:n.738T>C | |
| ENST00000696153.1:c.713T>C | ENSP00000512444.1:p.Leu238Pro | |
| ENST00000256474.3:c.602T>C MANE Select | ENSP00000256474.3:p.Leu201Pro | |
| ENST00000256474.2:c.602T>C | ENSP00000256474.2:p.Leu201Pro | |
| ENST00000345392.2:c.479T>C | ENSP00000344757.2:p.Leu160Pro | |
| ENST00000477538.1:n.738T>C | ||
| NM_000551.3:c.602T>C , LRG_322t1:c.602T>C | NP_000542.1:p.Leu201Pro | |
| NM_198156.2:c.479T>C | NP_937799.1:p.Leu160Pro | |
| NM_001354723.1:c.*156T>C | NP_001341652.1:n.*156T>C | |
| NM_000551.4:c.602T>C MANE Select | NP_000542.1:p.Leu201Pro | |
| NM_001354723.2:c.*156T>C | NP_001341652.1:n.*156T>C | |
| NM_198156.3:c.479T>C | NP_937799.1:p.Leu160Pro |