Linked Data
ClinVar Variation Id:
16385
ClinVar RCV Id:
RCV000017809
dbSNP Id:
rs121909618
PubMed:
PMID:2018836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154565826G>T , CM000666.2:g.154565826G>T | GRCh38 |
| NC_000004.11:g.155486978G>T , CM000666.1:g.155486978G>T | GRCh37 |
| NC_000004.10:g.155706428G>T | NCBI36 |
| NG_008833.1:g.7847G>T , LRG_558:g.7847G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302068.9:c.133G>T MANE Select | ENSP00000306099.4:p.Gly45Cys | |
| ENST00000302068.8:c.133G>T | ENSP00000306099.4:p.Gly45Cys | |
| ENST00000425838.5:c.*45G>T | ENSP00000398719.1:n.*45G>T | |
| ENST00000473984.1:n.46G>T | ||
| ENST00000497097.5:n.140G>T | ||
| ENST00000498375.2:n.763G>T | ||
| ENST00000502545.5:n.114G>T | ||
| ENST00000509493.1:c.-167-1767G>T | ENSP00000426757.1:n.-167-1767G>T | |
| NM_001184741.1:c.133G>T | NP_001171670.1:p.Gly45Cys | |
| NM_005141.4:c.133G>T , LRG_558t1:c.133G>T | NP_005132.2:p.Gly45Cys | |
| NM_001382759.1:c.133G>T | NP_001369688.1:p.Gly45Cys | |
| NM_001382760.1:c.133G>T | NP_001369689.1:p.Gly45Cys | |
| NM_001382761.1:c.133G>T | NP_001369690.1:p.Gly45Cys | |
| NM_001382762.1:c.133G>T | NP_001369691.1:p.Gly45Cys | |
| NM_001382763.1:c.133G>T | NP_001369692.1:p.Gly45Cys | |
| NM_001382764.1:c.133G>T | NP_001369693.1:p.Gly45Cys | |
| NM_001382765.1:c.133G>T | NP_001369694.1:p.Gly45Cys | |
| NM_005141.5:c.133G>T MANE Select | NP_005132.2:p.Gly45Cys |