Linked Data
ClinVar Variation Id:
376299
ClinVar RCV Id:
RCV000440255
dbSNP Id:
rs775522201
ExAC:
8:128750639 C / T
gnomAD v2:
8-128750639-C-T
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127738393C>T , CM000670.2:g.127738393C>T | GRCh38 |
| NC_000008.10:g.128750639C>T , CM000670.1:g.128750639C>T | GRCh37 |
| NC_000008.9:g.128819821C>T | NCBI36 |
| NG_007161.1:g.7324C>T | |
| NG_007161.2:g.7960C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707113.1:c.131C>T | ENSP00000516742.1:p.Ala44Val | |
| ENST00000707114.1:c.131C>T | ENSP00000516743.1:p.Ala44Val | |
| ENST00000707115.1:c.131C>T | ENSP00000516744.1:p.Ala44Val | |
| ENST00000707116.1:c.131C>T | ENSP00000516745.1:p.Ala44Val | |
| ENST00000517291.2:c.173C>T | ENSP00000429441.2:p.Ala58Val | |
| ENST00000524013.2:c.173C>T | ENSP00000430235.2:p.Ala58Val | |
| ENST00000621592.8:c.176C>T MANE Select | ENSP00000478887.2:p.Ala59Val | |
| ENST00000651626.1:c.-170C>T | ENSP00000499182.1:n.-170C>T | |
| ENST00000652288.1:c.131C>T | ENSP00000499105.1:p.Ala44Val | |
| ENST00000259523.10:c.131C>T | ENSP00000259523.6:p.Ala44Val | |
| ENST00000377970.6:c.131C>T | ENSP00000367207.3:p.Ala44Val | |
| ENST00000517291.1:c.173C>T | ENSP00000429441.1:p.Ala58Val | |
| ENST00000520751.1:c.97C>T | ENSP00000430226.1:p.Arg33Cys | |
| ENST00000524013.1:c.173C>T | ENSP00000430235.1:p.Ala58Val | |
| ENST00000613283.1:c.176C>T | ENSP00000479618.1:p.Ala59Val | |
| ENST00000621592.5:c.176C>T | ENSP00000478887.1:p.Ala59Val | |
| NM_002467.4:c.176C>T | NP_002458.2:p.Ala59Val | |
| NM_001354870.1:c.173C>T | NP_001341799.1:p.Ala58Val | |
| NM_002467.5:c.176C>T | NP_002458.2:p.Ala59Val | |
| NM_002467.6:c.176C>T MANE Select | NP_002458.2:p.Ala59Val |