Linked Data
ClinVar Variation Id:
476931
dbSNP Id:
rs144935862
ExAC:
11:9817433 C / T
gnomAD v2:
11-9817433-C-T
gnomAD v3:
11-9795886-C-T
gnomAD v4:
11-9795886-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9795886C>T , CM000673.2:g.9795886C>T | GRCh38 |
| NC_000011.9:g.9817433C>T , CM000673.1:g.9817433C>T | GRCh37 |
| NC_000011.8:g.9774009C>T | NCBI36 |
| NG_008074.1:g.503322G>A , LRG_267:g.503322G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.999G>A (SBF2) | ||
| ENST00000532095.2:n.1051G>A (SBF2) | ||
| ENST00000675281.2:c.4590G>A (SBF2) | ENSP00000502491.1:p.Val1530= | |
| ENST00000676324.2:c.*823G>A (SBF2) | ENSP00000502578.1:n.*823G>A | |
| ENST00000676387.2:c.4572G>A (SBF2) | ENSP00000502779.1:p.Val1524= | |
| ENST00000688344.1:c.4122G>A (SBF2) | ENSP00000509987.1:p.Val1374= | |
| ENST00000689128.1:c.4611G>A (SBF2) | ENSP00000509587.1:p.Val1537= | |
| ENST00000689258.1:c.4452G>A (SBF2) | ENSP00000510475.1:p.Val1484= | |
| ENST00000689342.1:c.681G>A (SBF2) | ||
| ENST00000689356.1:n.1686G>A (SBF2) | ||
| ENST00000689597.1:c.3219G>A (SBF2) | ENSP00000510781.1:p.Val1073= | |
| ENST00000689940.1:c.4509G>A (SBF2) | ENSP00000508452.1:p.Val1503= | |
| ENST00000690944.1:c.651-5203G>A (SBF2) | ||
| ENST00000691616.1:n.991G>A (SBF2) | ||
| ENST00000692716.1:c.4386G>A (SBF2) | ENSP00000509545.1:p.Val1462= | |
| ENST00000693541.1:n.1434G>A (SBF2) | ||
| ENST00000256190.13:c.4515G>A (SBF2) MANE Select | ENSP00000256190.8:p.Val1505= | |
| ENST00000675281.1:c.4590G>A (SBF2) | ENSP00000502491.1:p.Val1530= | |
| ENST00000676324.1:c.*823G>A (SBF2) | ENSP00000502578.1:n.*823G>A | |
| ENST00000676387.1:c.4572G>A (SBF2) | ENSP00000502779.1:p.Val1524= | |
| ENST00000256190.12:c.4515G>A (SBF2) | ENSP00000256190.8:p.Val1505= | |
| ENST00000617179.4:c.4374G>A (SBF2) | ENSP00000482806.1:p.Val1458= | |
| NM_030962.3:c.4515G>A , LRG_267t1:c.4515G>A (SBF2) | NP_112224.1:p.Val1505= | |
| NR_036485.1:n.212-11962C>T (SBF2-AS1) | ||
| XM_005253154.3:c.4611G>A (SBF2) | XP_005253211.1:p.Val1537= | |
| XM_005253155.3:c.4482G>A (SBF2) | XP_005253212.1:p.Val1494= | |
| XM_011520394.1:c.4497G>A (SBF2) | XP_011518696.1:p.Val1499= | |
| XM_005253154.5:c.4611G>A (SBF2) | XP_005253211.1:p.Val1537= | |
| XM_005253155.5:c.4482G>A (SBF2) | XP_005253212.1:p.Val1494= | |
| XM_011520394.3:c.4497G>A (SBF2) | XP_011518696.1:p.Val1499= | |
| XM_017018372.2:c.4473G>A (SBF2) | XP_016873861.1:p.Val1491= | |
| XM_017018373.2:c.4473G>A (SBF2) | XP_016873862.1:p.Val1491= | |
| XM_017018374.2:c.4386G>A (SBF2) | XP_016873863.1:p.Val1462= | |
| XM_017018375.2:c.4374G>A (SBF2) | XP_016873864.1:p.Val1458= | |
| XR_001747994.2:n.4678-5203G>A (SBF2) | ||
| NM_001386339.1:c.4611G>A (SBF2) | NP_001373268.1:p.Val1537= | |
| NM_001386342.1:c.4386G>A (SBF2) | NP_001373271.1:p.Val1462= | |
| NM_030962.4:c.4515G>A (SBF2) MANE Select | NP_112224.1:p.Val1505= |