Linked Data
ClinVar Variation Id:
1102977
ClinVar RCV Id:
RCV001426467
dbSNP Id:
rs138850562
gnomAD v3:
11-9784384-G-A
gnomAD v4:
11-9784384-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9784384G>A , CM000673.2:g.9784384G>A | GRCh38 |
| NC_000011.9:g.9805931G>A , CM000673.1:g.9805931G>A | GRCh37 |
| NC_000011.8:g.9762507G>A | NCBI36 |
| NG_008074.1:g.514824C>T , LRG_267:g.514824C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1770C>T (SBF2) | ||
| ENST00000529587.2:n.280C>T (SBF2) | ||
| ENST00000675281.2:c.5361C>T (SBF2) | ENSP00000502491.1:p.Pro1787= | |
| ENST00000676324.2:c.*1594C>T (SBF2) | ENSP00000502578.1:n.*1594C>T | |
| ENST00000676387.2:c.5343C>T (SBF2) | ENSP00000502779.1:p.Pro1781= | |
| ENST00000688344.1:c.4893C>T (SBF2) | ENSP00000509987.1:p.Pro1631= | |
| ENST00000689128.1:c.5382C>T (SBF2) | ENSP00000509587.1:p.Pro1794= | |
| ENST00000689258.1:c.5223C>T (SBF2) | ENSP00000510475.1:p.Pro1741= | |
| ENST00000689342.1:c.1452C>T (SBF2) | ||
| ENST00000689356.1:n.2457C>T (SBF2) | ||
| ENST00000689940.1:c.5280C>T (SBF2) | ENSP00000508452.1:p.Pro1760= | |
| ENST00000690944.1:c.1366C>T (SBF2) | ||
| ENST00000691616.1:n.1762C>T (SBF2) | ||
| ENST00000692716.1:c.5157C>T (SBF2) | ENSP00000509545.1:p.Pro1719= | |
| ENST00000693541.1:n.2205C>T (SBF2) | ||
| ENST00000256190.13:c.5286C>T (SBF2) MANE Select | ENSP00000256190.8:p.Pro1762= | |
| ENST00000675281.1:c.5361C>T (SBF2) | ENSP00000502491.1:p.Pro1787= | |
| ENST00000676324.1:c.*1594C>T (SBF2) | ENSP00000502578.1:n.*1594C>T | |
| ENST00000676387.1:c.5343C>T (SBF2) | ENSP00000502779.1:p.Pro1781= | |
| ENST00000256190.12:c.5286C>T (SBF2) | ENSP00000256190.8:p.Pro1762= | |
| ENST00000525040.5:n.589C>T (SBF2) | ||
| ENST00000529587.1:n.280C>T (SBF2) | ||
| ENST00000617179.4:c.5145C>T (SBF2) | ENSP00000482806.1:p.Pro1715= | |
| NM_030962.3:c.5286C>T , LRG_267t1:c.5286C>T (SBF2) | NP_112224.1:p.Pro1762= | |
| NR_036485.1:n.212-23464G>A (SBF2-AS1) | ||
| XM_005253154.3:c.5382C>T (SBF2) | XP_005253211.1:p.Pro1794= | |
| XM_005253155.3:c.5253C>T (SBF2) | XP_005253212.1:p.Pro1751= | |
| XM_011520394.1:c.5268C>T (SBF2) | XP_011518696.1:p.Pro1756= | |
| XR_931024.1:n.271-208G>A | ||
| XR_931025.1:n.270+1275G>A | ||
| XM_005253154.5:c.5382C>T (SBF2) | XP_005253211.1:p.Pro1794= | |
| XM_005253155.5:c.5253C>T (SBF2) | XP_005253212.1:p.Pro1751= | |
| XM_011520394.3:c.5268C>T (SBF2) | XP_011518696.1:p.Pro1756= | |
| XM_017018372.2:c.5244C>T (SBF2) | XP_016873861.1:p.Pro1748= | |
| XM_017018373.2:c.5244C>T (SBF2) | XP_016873862.1:p.Pro1748= | |
| XM_017018374.2:c.5157C>T (SBF2) | XP_016873863.1:p.Pro1719= | |
| XM_017018375.2:c.5145C>T (SBF2) | XP_016873864.1:p.Pro1715= | |
| XR_001747994.2:n.5393C>T (SBF2) | ||
| XR_001748470.1:n.271-208G>A | ||
| XR_001748471.1:n.86-208G>A | ||
| NM_001386339.1:c.5382C>T (SBF2) | NP_001373268.1:p.Pro1794= | |
| NM_001386342.1:c.5157C>T (SBF2) | NP_001373271.1:p.Pro1719= | |
| NM_030962.4:c.5286C>T (SBF2) MANE Select | NP_112224.1:p.Pro1762= |