Linked Data
ClinVar Variation Id:
265334
dbSNP Id:
rs764776104
ExAC:
8:100160140 C / T
gnomAD v2:
8-100160140-C-T
gnomAD v3:
8-99147912-C-T
gnomAD v4:
8-99147912-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99147912C>T , CM000670.2:g.99147912C>T | GRCh38 |
| NC_000008.10:g.100160140C>T , CM000670.1:g.100160140C>T | GRCh37 |
| NC_000008.9:g.100229316C>T | NCBI36 |
| NG_007098.2:g.139647C>T , LRG_351:g.139647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355155.6:c.1915C>T | ENSP00000347281.2:p.Arg639Ter | |
| ENST00000682145.1:n.1792C>T | ||
| ENST00000682153.1:c.1915C>T | ENSP00000507923.1:p.Arg639Ter | |
| ENST00000682234.1:c.1915C>T | ENSP00000508225.1:p.Arg639Ter | |
| ENST00000682358.1:n.1985C>T | ||
| ENST00000682853.1:n.2135C>T | ||
| ENST00000683334.1:c.1915C>T | ENSP00000507369.1:p.Arg639Ter | |
| ENST00000683486.1:n.1981C>T | ||
| ENST00000683619.1:n.2018C>T | ||
| ENST00000683869.1:n.1996C>T | ||
| ENST00000684308.1:n.1981C>T | ||
| ENST00000357162.7:c.1915C>T MANE Select | ENSP00000349685.2:p.Arg639Ter | |
| ENST00000358544.7:c.1915C>T MANE Plus Clinical | ENSP00000351346.2:p.Arg639Ter | |
| ENST00000355155.5:c.1915C>T | ENSP00000347281.1:p.Arg639Ter | |
| ENST00000357162.6:c.1915C>T | ENSP00000349685.2:p.Arg639Ter | |
| ENST00000358544.6:c.1915C>T | ENSP00000351346.2:p.Arg639Ter | |
| ENST00000496144.5:c.1915C>T | ENSP00000430900.1:p.Arg639Ter | |
| NM_015243.2:c.1915C>T , LRG_351t3:c.1915C>T | NP_056058.2:p.Arg639Ter | |
| NM_017890.4:c.1915C>T , LRG_351t1:c.1915C>T | NP_060360.3:p.Arg639Ter | |
| NM_152564.4:c.1915C>T , LRG_351t2:c.1915C>T | NP_689777.3:p.Arg639Ter | |
| XM_005250800.2:c.1915C>T | XP_005250857.1:p.Arg639Ter | |
| XM_005250801.3:c.1915C>T | XP_005250858.1:p.Arg639Ter | |
| XM_006716510.2:c.1915C>T | XP_006716573.1:p.Arg639Ter | |
| XM_006716511.2:c.1915C>T | XP_006716574.1:p.Arg639Ter | |
| XM_011516848.1:c.1915C>T | XP_011515150.1:p.Arg639Ter | |
| XM_011516849.1:c.1915C>T | XP_011515151.1:p.Arg639Ter | |
| XM_011516850.1:c.1537C>T | XP_011515152.1:p.Arg513Ter | |
| XM_011516853.1:c.1915C>T | XP_011515155.1:p.Arg639Ter | |
| XM_011516855.1:c.1915C>T | XP_011515157.1:p.Arg639Ter | |
| XM_011516856.1:c.1915C>T | XP_011515158.1:p.Arg639Ter | |
| XM_011516857.1:c.1915C>T | XP_011515159.1:p.Arg639Ter | |
| XM_011516858.1:c.1915C>T | XP_011515160.1:p.Arg639Ter | |
| XM_011516859.1:c.1915C>T | XP_011515161.1:p.Arg639Ter | |
| XM_011516860.1:c.1915C>T | XP_011515162.1:p.Arg639Ter | |
| XM_011516861.1:c.1915C>T | XP_011515163.1:p.Arg639Ter | |
| XM_011516862.1:c.1915C>T | XP_011515164.1:p.Arg639Ter | |
| XM_011516863.1:c.1915C>T | XP_011515165.1:p.Arg639Ter | |
| XM_011516864.1:c.1915C>T | XP_011515166.1:p.Arg639Ter | |
| XM_011516865.1:c.1915C>T | XP_011515167.1:p.Arg639Ter | |
| XM_011516866.1:c.1915C>T | XP_011515168.1:p.Arg639Ter | |
| XR_928301.1:n.2018C>T | ||
| XR_928302.1:n.2018C>T | ||
| XR_928303.1:n.2018C>T | ||
| XR_928304.1:n.2018C>T | ||
| XM_005250800.3:c.1915C>T | XP_005250857.1:p.Arg639Ter | |
| XM_005250801.5:c.1915C>T | XP_005250858.1:p.Arg639Ter | |
| XM_006716510.3:c.1915C>T | XP_006716573.1:p.Arg639Ter | |
| XM_011516848.2:c.1915C>T | XP_011515150.1:p.Arg639Ter | |
| XM_011516849.2:c.1915C>T | XP_011515151.1:p.Arg639Ter | |
| XM_011516850.2:c.1537C>T | XP_011515152.1:p.Arg513Ter | |
| XM_011516853.2:c.1915C>T | XP_011515155.1:p.Arg639Ter | |
| XM_011516859.2:c.1915C>T | XP_011515161.1:p.Arg639Ter | |
| XM_011516866.2:c.1915C>T | XP_011515168.1:p.Arg639Ter | |
| XM_017013109.1:c.1915C>T | XP_016868598.1:p.Arg639Ter | |
| XM_024447074.1:c.700C>T | XP_024302842.1:p.Arg234Ter | |
| XM_024447075.1:c.1915C>T | XP_024302843.1:p.Arg639Ter | |
| XR_001745481.1:n.2018C>T | ||
| XR_001745482.2:n.2018C>T | ||
| XR_001745484.2:n.2018C>T | ||
| XR_002956601.1:n.2018C>T | ||
| XR_002956602.1:n.2018C>T | ||
| XR_928302.2:n.2018C>T | ||
| NM_015243.3:c.1915C>T | NP_056058.2:p.Arg639Ter | |
| NM_017890.5:c.1915C>T MANE Plus Clinical | NP_060360.3:p.Arg639Ter | |
| NM_152564.5:c.1915C>T MANE Select | NP_689777.3:p.Arg639Ter |