Linked Data
ClinVar Variation Id:
375316
ClinVar RCV Id:
RCV000416332
dbSNP Id:
rs1057519342
gnomAD v4:
7-4789856-C-T
PubMed:
PMID:26085577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4789856C>T , CM000669.2:g.4789856C>T | GRCh38 |
| NC_000007.13:g.4829487C>T , CM000669.1:g.4829487C>T | GRCh37 |
| NC_000007.12:g.4796013C>T | NCBI36 |
| NG_028111.1:g.19226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1490C>T | ||
| ENST00000496303.6:n.1560C>T | ||
| ENST00000647984.1:c.*1077C>T | ENSP00000497794.1:n.*1077C>T | |
| ENST00000648237.1:c.20C>T | ||
| ENST00000648360.1:c.342C>T | ||
| ENST00000648925.1:c.1732C>T | ENSP00000496830.1:p.Gln578Ter | |
| ENST00000649063.2:c.1732C>T MANE Select | ENSP00000497815.1:p.Gln578Ter | |
| ENST00000649315.1:c.1229C>T | ||
| ENST00000649419.1:n.1611C>T | ||
| ENST00000649736.1:n.595C>T | ||
| ENST00000650310.1:c.*303C>T | ENSP00000497395.1:n.*303C>T | |
| ENST00000650581.1:c.534C>T | ||
| ENST00000348624.4:c.1732C>T | ENSP00000297562.4:p.Gln578Ter | |
| ENST00000469614.1:n.751C>T | ||
| ENST00000477680.5:n.1490C>T | ||
| ENST00000490487.1:n.20C>T | ||
| ENST00000496303.5:n.1796C>T | ||
| NM_014855.2:c.1732C>T | NP_055670.1:p.Gln578Ter | |
| NM_001364858.1:c.1264C>T | NP_001351787.1:p.Gln422Ter | |
| NM_014855.3:c.1732C>T MANE Select | NP_055670.1:p.Gln578Ter | |
| NR_157345.1:n.1863C>T |