Linked Data
ClinVar Variation Id:
16382
dbSNP Id:
rs121909616
COSMIC:
COSM1642428
PubMed:
PMID:1565641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154565823C>T , CM000666.2:g.154565823C>T | GRCh38 |
| NC_000004.11:g.155486975C>T , CM000666.1:g.155486975C>T | GRCh37 |
| NC_000004.10:g.155706425C>T | NCBI36 |
| NG_008833.1:g.7844C>T , LRG_558:g.7844C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302068.9:c.130C>T MANE Select | ENSP00000306099.4:p.Arg44Cys | |
| ENST00000302068.8:c.130C>T | ENSP00000306099.4:p.Arg44Cys | |
| ENST00000425838.5:c.*42C>T | ENSP00000398719.1:n.*42C>T | |
| ENST00000473984.1:n.43C>T | ||
| ENST00000497097.5:n.137C>T | ||
| ENST00000498375.2:n.760C>T | ||
| ENST00000502545.5:n.111C>T | ||
| ENST00000509493.1:c.-167-1770C>T | ENSP00000426757.1:n.-167-1770C>T | |
| NM_001184741.1:c.130C>T | NP_001171670.1:p.Arg44Cys | |
| NM_005141.4:c.130C>T , LRG_558t1:c.130C>T | NP_005132.2:p.Arg44Cys | |
| NM_001382759.1:c.130C>T | NP_001369688.1:p.Arg44Cys | |
| NM_001382760.1:c.130C>T | NP_001369689.1:p.Arg44Cys | |
| NM_001382761.1:c.130C>T | NP_001369690.1:p.Arg44Cys | |
| NM_001382762.1:c.130C>T | NP_001369691.1:p.Arg44Cys | |
| NM_001382763.1:c.130C>T | NP_001369692.1:p.Arg44Cys | |
| NM_001382764.1:c.130C>T | NP_001369693.1:p.Arg44Cys | |
| NM_001382765.1:c.130C>T | NP_001369694.1:p.Arg44Cys | |
| NM_005141.5:c.130C>T MANE Select | NP_005132.2:p.Arg44Cys |