Linked Data
ClinVar Variation Id:
480772
ClinVar RCV Id:
RCV000561095
dbSNP Id:
rs1553620318
CIViC:
CA351756135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149810C>T , CM000665.2:g.10149810C>T | GRCh38 |
| NC_000003.11:g.10191494C>T , CM000665.1:g.10191494C>T | GRCh37 |
| NC_000003.10:g.10166494C>T | NCBI36 |
| NG_008212.3:g.13176C>T , LRG_322:g.13176C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*164C>T | ENSP00000512434.1:n.*164C>T | |
| ENST00000696143.1:c.623C>T | ENSP00000512435.1:n.623C>T | |
| ENST00000696153.1:c.598C>T | ENSP00000512444.1:p.Leu200Phe | |
| ENST00000256474.3:c.487C>T MANE Select | ENSP00000256474.3:p.Leu163Phe | |
| ENST00000256474.2:c.487C>T | ENSP00000256474.2:p.Leu163Phe | |
| ENST00000345392.2:c.364C>T | ENSP00000344757.2:p.Leu122Phe | |
| ENST00000477538.1:n.623C>T | ||
| NM_000551.3:c.487C>T , LRG_322t1:c.487C>T | NP_000542.1:p.Leu163Phe | |
| NM_198156.2:c.364C>T | NP_937799.1:p.Leu122Phe | |
| NM_001354723.1:c.*41C>T | NP_001341652.1:n.*41C>T | |
| NM_000551.4:c.487C>T MANE Select | NP_000542.1:p.Leu163Phe | |
| NM_001354723.2:c.*41C>T | NP_001341652.1:n.*41C>T | |
| NM_198156.3:c.364C>T | NP_937799.1:p.Leu122Phe |