Linked Data
ClinVar Variation Id:
128250
dbSNP Id:
rs587779779
ExAC:
19:7696362 C / T
gnomAD v2:
19-7696362-C-T
gnomAD v4:
19-7631476-C-T
PubMed:
PMID:25293719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7631476C>T , CM000681.2:g.7631476C>T | GRCh38 |
| NC_000019.9:g.7696362C>T , CM000681.1:g.7696362C>T | GRCh37 |
| NC_000019.8:g.7602362C>T | NCBI36 |
| NG_034117.1:g.6692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595866.2:c.138+630C>T | ENSP00000469553.2:n.138+630C>T | |
| ENST00000698367.1:n.85+630C>T | ||
| ENST00000698368.1:c.114+817C>T | ENSP00000513686.1:n.114+817C>T | |
| ENST00000698396.1:c.91C>T | ENSP00000513691.1:p.Gln31Ter | |
| ENST00000698397.1:c.*239C>T | ENSP00000513692.1:n.*239C>T | |
| ENST00000698398.1:c.208C>T | ENSP00000513693.1:n.208C>T | |
| ENST00000594797.6:c.142C>T MANE Select | ENSP00000470539.1:p.Gln48Ter | |
| ENST00000456958.7:c.55C>T | ENSP00000392303.3:p.Gln19Ter | |
| ENST00000594797.5:c.142C>T | ENSP00000470539.1:p.Gln48Ter | |
| ENST00000595866.1:c.136+630C>T | ||
| ENST00000598540.6:c.227C>T | ||
| ENST00000598664.5:c.51+630C>T | ENSP00000472796.1:n.51+630C>T | |
| ENST00000599243.5:c.139-174C>T | ENSP00000470078.1:n.139-174C>T | |
| ENST00000600836.1:n.326C>T | ||
| ENST00000623154.1:n.1668C>T | ||
| NM_001171155.1:c.142C>T | NP_001164626.1:p.Gln48Ter | |
| NR_033242.1:n.281C>T | ||
| NM_001171155.2:c.142C>T MANE Select | NP_001164626.1:p.Gln48Ter | |
| NR_033242.2:n.273C>T |