Linked Data
ClinVar Variation Id:
469620
ClinVar RCV Id:
RCV000527999
dbSNP Id:
rs369159451
ExAC:
19:7625951 C / T
gnomAD v2:
19-7625951-C-T
gnomAD v3:
19-7561065-C-T
gnomAD v4:
19-7561065-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7561065C>T , CM000681.2:g.7561065C>T | GRCh38 |
| NC_000019.9:g.7625951C>T , CM000681.1:g.7625951C>T | GRCh37 |
| NC_000019.8:g.7531951C>T | NCBI36 |
| NG_013374.1:g.31914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3868C>T MANE Select | ENSP00000473211.1:p.Arg1290Trp | |
| ENST00000221249.10:c.3754C>T | ENSP00000221249.5:p.Arg1252Trp | |
| ENST00000414982.7:c.3898C>T | ENSP00000407509.2:p.Arg1300Trp | |
| ENST00000450331.7:c.3754C>T | ENSP00000394348.2:p.Arg1252Trp | |
| ENST00000545201.6:c.3673C>T | ENSP00000443323.1:p.Arg1225Trp | |
| ENST00000597202.1:n.226C>T | ||
| ENST00000599947.1:c.237C>T | ||
| ENST00000600737.5:c.3868C>T | ENSP00000473211.1:p.Arg1290Trp | |
| NM_001166111.1:c.3898C>T | NP_001159583.1:p.Arg1300Trp | |
| NM_001166112.1:c.3673C>T | NP_001159584.1:p.Arg1225Trp | |
| NM_001166113.1:c.3754C>T | NP_001159585.1:p.Arg1252Trp | |
| NM_001166114.1:c.3868C>T | NP_001159586.1:p.Arg1290Trp | |
| NM_006702.4:c.3754C>T | NP_006693.3:p.Arg1252Trp | |
| NM_001166111.2:c.3898C>T | NP_001159583.1:p.Arg1300Trp | |
| NM_001166114.2:c.3868C>T MANE Select | NP_001159586.1:p.Arg1290Trp | |
| NM_006702.5:c.3754C>T | NP_006693.3:p.Arg1252Trp | |
| NM_001166112.2:c.3673C>T | NP_001159584.1:p.Arg1225Trp |