Linked Data
ClinVar Variation Id:
2231
ClinVar RCV Id:
RCV000002319
dbSNP Id:
rs28940297
COSMIC:
COSM14355
PubMed:
PMID:11986208
CIViC:
CA020423
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149811T>C , CM000665.2:g.10149811T>C | GRCh38 |
| NC_000003.11:g.10191495T>C , CM000665.1:g.10191495T>C | GRCh37 |
| NC_000003.10:g.10166495T>C | NCBI36 |
| NG_008212.3:g.13177T>C , LRG_322:g.13177T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*165T>C | ENSP00000512434.1:n.*165T>C | |
| ENST00000696143.1:c.624T>C | ENSP00000512435.1:n.624T>C | |
| ENST00000696153.1:c.599T>C | ENSP00000512444.1:p.Leu200Pro | |
| ENST00000256474.3:c.488T>C MANE Select | ENSP00000256474.3:p.Leu163Pro | |
| ENST00000256474.2:c.488T>C | ENSP00000256474.2:p.Leu163Pro | |
| ENST00000345392.2:c.365T>C | ENSP00000344757.2:p.Leu122Pro | |
| ENST00000477538.1:n.624T>C | ||
| NM_000551.3:c.488T>C , LRG_322t1:c.488T>C | NP_000542.1:p.Leu163Pro | |
| NM_198156.2:c.365T>C | NP_937799.1:p.Leu122Pro | |
| NM_001354723.1:c.*42T>C | NP_001341652.1:n.*42T>C | |
| NM_000551.4:c.488T>C MANE Select | NP_000542.1:p.Leu163Pro | |
| NM_001354723.2:c.*42T>C | NP_001341652.1:n.*42T>C | |
| NM_198156.3:c.365T>C | NP_937799.1:p.Leu122Pro |