Linked Data
ClinVar Variation Id:
1350323
ClinVar RCV Id:
RCV002039662
dbSNP Id:
rs778792847
ExAC:
19:7625535 A / T
gnomAD v2:
19-7625535-A-T
gnomAD v4:
19-7560649-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7560649A>T , CM000681.2:g.7560649A>T | GRCh38 |
| NC_000019.9:g.7625535A>T , CM000681.1:g.7625535A>T | GRCh37 |
| NC_000019.8:g.7531535A>T | NCBI36 |
| NG_013374.1:g.31498A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3701A>T MANE Select | ENSP00000473211.1:p.Asp1234Val | |
| ENST00000221249.10:c.3587A>T | ENSP00000221249.5:p.Asp1196Val | |
| ENST00000414982.7:c.3731A>T | ENSP00000407509.2:p.Asp1244Val | |
| ENST00000450331.7:c.3587A>T | ENSP00000394348.2:p.Asp1196Val | |
| ENST00000545201.6:c.3506A>T | ENSP00000443323.1:p.Asp1169Val | |
| ENST00000597202.1:n.59A>T | ||
| ENST00000599947.1:c.186-365A>T | ||
| ENST00000600737.5:c.3701A>T | ENSP00000473211.1:p.Asp1234Val | |
| NM_001166111.1:c.3731A>T | NP_001159583.1:p.Asp1244Val | |
| NM_001166112.1:c.3506A>T | NP_001159584.1:p.Asp1169Val | |
| NM_001166113.1:c.3587A>T | NP_001159585.1:p.Asp1196Val | |
| NM_001166114.1:c.3701A>T | NP_001159586.1:p.Asp1234Val | |
| NM_006702.4:c.3587A>T | NP_006693.3:p.Asp1196Val | |
| NM_001166111.2:c.3731A>T | NP_001159583.1:p.Asp1244Val | |
| NM_001166114.2:c.3701A>T MANE Select | NP_001159586.1:p.Asp1234Val | |
| NM_006702.5:c.3587A>T | NP_006693.3:p.Asp1196Val | |
| NM_001166112.2:c.3506A>T | NP_001159584.1:p.Asp1169Val |