Linked Data
ClinVar Variation Id:
370352
ClinVar RCV Id:
RCV000411018
dbSNP Id:
rs1057516422
gnomAD v4:
8-99096396-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99096396C>T , CM000670.2:g.99096396C>T | GRCh38 |
| NC_000008.10:g.100108624C>T , CM000670.1:g.100108624C>T | GRCh37 |
| NC_000008.9:g.100177800C>T | NCBI36 |
| NG_007098.2:g.88131C>T , LRG_351:g.88131C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355155.6:c.376C>T | ENSP00000347281.2:p.Gln126Ter | |
| ENST00000682145.1:n.445C>T | ||
| ENST00000682153.1:c.376C>T | ENSP00000507923.1:p.Gln126Ter | |
| ENST00000682234.1:c.376C>T | ENSP00000508225.1:p.Gln126Ter | |
| ENST00000682358.1:n.446C>T | ||
| ENST00000682806.1:n.477C>T | ||
| ENST00000682853.1:n.596C>T | ||
| ENST00000683334.1:c.376C>T | ENSP00000507369.1:p.Gln126Ter | |
| ENST00000683486.1:n.442C>T | ||
| ENST00000683619.1:n.479C>T | ||
| ENST00000683869.1:n.457C>T | ||
| ENST00000684269.1:n.477C>T | ||
| ENST00000684308.1:n.442C>T | ||
| ENST00000357162.7:c.376C>T MANE Select | ENSP00000349685.2:p.Gln126Ter | |
| ENST00000358544.7:c.376C>T MANE Plus Clinical | ENSP00000351346.2:p.Gln126Ter | |
| ENST00000355155.5:c.376C>T | ENSP00000347281.1:p.Gln126Ter | |
| ENST00000357162.6:c.376C>T | ENSP00000349685.2:p.Gln126Ter | |
| ENST00000358544.6:c.376C>T | ENSP00000351346.2:p.Gln126Ter | |
| ENST00000441350.2:c.376C>T | ENSP00000398472.2:p.Gln126Ter | |
| ENST00000496144.5:c.376C>T | ENSP00000430900.1:p.Gln126Ter | |
| NM_015243.2:c.376C>T , LRG_351t3:c.376C>T | NP_056058.2:p.Gln126Ter | |
| NM_017890.4:c.376C>T , LRG_351t1:c.376C>T | NP_060360.3:p.Gln126Ter | |
| NM_152564.4:c.376C>T , LRG_351t2:c.376C>T | NP_689777.3:p.Gln126Ter | |
| NM_181661.2:c.376C>T , LRG_351t4:c.376C>T | NP_858047.2:p.Gln126Ter | |
| NR_047582.1:n.602C>T | ||
| XM_005250800.2:c.376C>T | XP_005250857.1:p.Gln126Ter | |
| XM_005250801.3:c.376C>T | XP_005250858.1:p.Gln126Ter | |
| XM_006716510.2:c.376C>T | XP_006716573.1:p.Gln126Ter | |
| XM_006716511.2:c.376C>T | XP_006716574.1:p.Gln126Ter | |
| XM_011516848.1:c.376C>T | XP_011515150.1:p.Gln126Ter | |
| XM_011516849.1:c.376C>T | XP_011515151.1:p.Gln126Ter | |
| XM_011516850.1:c.-58C>T | XP_011515152.1:n.-58C>T | |
| XM_011516853.1:c.376C>T | XP_011515155.1:p.Gln126Ter | |
| XM_011516855.1:c.376C>T | XP_011515157.1:p.Gln126Ter | |
| XM_011516856.1:c.376C>T | XP_011515158.1:p.Gln126Ter | |
| XM_011516857.1:c.376C>T | XP_011515159.1:p.Gln126Ter | |
| XM_011516858.1:c.376C>T | XP_011515160.1:p.Gln126Ter | |
| XM_011516859.1:c.376C>T | XP_011515161.1:p.Gln126Ter | |
| XM_011516860.1:c.376C>T | XP_011515162.1:p.Gln126Ter | |
| XM_011516861.1:c.376C>T | XP_011515163.1:p.Gln126Ter | |
| XM_011516862.1:c.376C>T | XP_011515164.1:p.Gln126Ter | |
| XM_011516863.1:c.376C>T | XP_011515165.1:p.Gln126Ter | |
| XM_011516864.1:c.376C>T | XP_011515166.1:p.Gln126Ter | |
| XM_011516865.1:c.376C>T | XP_011515167.1:p.Gln126Ter | |
| XM_011516866.1:c.376C>T | XP_011515168.1:p.Gln126Ter | |
| XR_928301.1:n.479C>T | ||
| XR_928302.1:n.479C>T | ||
| XR_928303.1:n.479C>T | ||
| XR_928304.1:n.479C>T | ||
| XM_005250800.3:c.376C>T | XP_005250857.1:p.Gln126Ter | |
| XM_005250801.5:c.376C>T | XP_005250858.1:p.Gln126Ter | |
| XM_006716510.3:c.376C>T | XP_006716573.1:p.Gln126Ter | |
| XM_011516848.2:c.376C>T | XP_011515150.1:p.Gln126Ter | |
| XM_011516849.2:c.376C>T | XP_011515151.1:p.Gln126Ter | |
| XM_011516850.2:c.-58C>T | XP_011515152.1:n.-58C>T | |
| XM_011516853.2:c.376C>T | XP_011515155.1:p.Gln126Ter | |
| XM_011516859.2:c.376C>T | XP_011515161.1:p.Gln126Ter | |
| XM_011516866.2:c.376C>T | XP_011515168.1:p.Gln126Ter | |
| XM_017013109.1:c.376C>T | XP_016868598.1:p.Gln126Ter | |
| XM_024447074.1:c.-952C>T | XP_024302842.1:n.-952C>T | |
| XM_024447075.1:c.376C>T | XP_024302843.1:p.Gln126Ter | |
| XR_001745481.1:n.479C>T | ||
| XR_001745482.2:n.479C>T | ||
| XR_001745484.2:n.479C>T | ||
| XR_002956601.1:n.479C>T | ||
| XR_002956602.1:n.479C>T | ||
| XR_928302.2:n.479C>T | ||
| NM_015243.3:c.376C>T | NP_056058.2:p.Gln126Ter | |
| NM_017890.5:c.376C>T MANE Plus Clinical | NP_060360.3:p.Gln126Ter | |
| NM_152564.5:c.376C>T MANE Select | NP_689777.3:p.Gln126Ter | |
| NM_181661.3:c.376C>T | NP_858047.2:p.Gln126Ter | |
| NR_047582.2:n.594C>T |