Linked Data
ClinVar Variation Id:
861873
ClinVar RCV Id:
RCV001068485
dbSNP Id:
rs745534248
ExAC:
11:9803106 G / A
gnomAD v2:
11-9803106-G-A
gnomAD v4:
11-9781559-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9781559G>A , CM000673.2:g.9781559G>A | GRCh38 |
| NC_000011.9:g.9803106G>A , CM000673.1:g.9803106G>A | GRCh37 |
| NC_000011.8:g.9759682G>A | NCBI36 |
| NG_008074.1:g.517649C>T , LRG_267:g.517649C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1883C>T (SBF2) | ||
| ENST00000529587.2:n.393C>T (SBF2) | ||
| ENST00000675281.2:c.5474C>T (SBF2) | ENSP00000502491.1:p.Ala1825Val | |
| ENST00000676324.2:c.*1707C>T (SBF2) | ENSP00000502578.1:n.*1707C>T | |
| ENST00000676387.2:c.5456C>T (SBF2) | ENSP00000502779.1:p.Ala1819Val | |
| ENST00000688344.1:c.5006C>T (SBF2) | ENSP00000509987.1:p.Ala1669Val | |
| ENST00000689128.1:c.5495C>T (SBF2) | ENSP00000509587.1:p.Ala1832Val | |
| ENST00000689258.1:c.5336C>T (SBF2) | ENSP00000510475.1:p.Ala1779Val | |
| ENST00000689342.1:c.1565C>T (SBF2) | ||
| ENST00000689356.1:n.2570C>T (SBF2) | ||
| ENST00000689940.1:c.5393C>T (SBF2) | ENSP00000508452.1:p.Ala1798Val | |
| ENST00000690437.1:n.1348C>T (SBF2) | ||
| ENST00000690944.1:c.1479C>T (SBF2) | ||
| ENST00000691616.1:n.1875C>T (SBF2) | ||
| ENST00000692716.1:c.5270C>T (SBF2) | ENSP00000509545.1:p.Ala1757Val | |
| ENST00000693541.1:n.2318C>T (SBF2) | ||
| ENST00000256190.13:c.5399C>T (SBF2) MANE Select | ENSP00000256190.8:p.Ala1800Val | |
| ENST00000675281.1:c.5474C>T (SBF2) | ENSP00000502491.1:p.Ala1825Val | |
| ENST00000676324.1:c.*1707C>T (SBF2) | ENSP00000502578.1:n.*1707C>T | |
| ENST00000676387.1:c.5456C>T (SBF2) | ENSP00000502779.1:p.Ala1819Val | |
| ENST00000256190.12:c.5399C>T (SBF2) | ENSP00000256190.8:p.Ala1800Val | |
| ENST00000525040.5:n.702C>T (SBF2) | ||
| ENST00000529587.1:n.393C>T (SBF2) | ||
| ENST00000617179.4:c.5258C>T (SBF2) | ENSP00000482806.1:p.Ala1753Val | |
| NM_030962.3:c.5399C>T , LRG_267t1:c.5399C>T (SBF2) | NP_112224.1:p.Ala1800Val | |
| NR_036485.1:n.211+23056G>A (SBF2-AS1) | ||
| XM_005253154.3:c.5495C>T (SBF2) | XP_005253211.1:p.Ala1832Val | |
| XM_005253155.3:c.5366C>T (SBF2) | XP_005253212.1:p.Ala1789Val | |
| XM_011520394.1:c.5381C>T (SBF2) | XP_011518696.1:p.Ala1794Val | |
| XR_931024.1:n.200+984G>A | ||
| XR_931025.1:n.200+984G>A | ||
| XM_005253154.5:c.5495C>T (SBF2) | XP_005253211.1:p.Ala1832Val | |
| XM_005253155.5:c.5366C>T (SBF2) | XP_005253212.1:p.Ala1789Val | |
| XM_011520394.3:c.5381C>T (SBF2) | XP_011518696.1:p.Ala1794Val | |
| XM_017018372.2:c.5357C>T (SBF2) | XP_016873861.1:p.Ala1786Val | |
| XM_017018373.2:c.5357C>T (SBF2) | XP_016873862.1:p.Ala1786Val | |
| XM_017018374.2:c.5270C>T (SBF2) | XP_016873863.1:p.Ala1757Val | |
| XM_017018375.2:c.5258C>T (SBF2) | XP_016873864.1:p.Ala1753Val | |
| XR_001747994.2:n.5506C>T (SBF2) | ||
| XR_001748470.1:n.200+984G>A | ||
| XR_001748471.1:n.85+984G>A | ||
| NM_001386339.1:c.5495C>T (SBF2) | NP_001373268.1:p.Ala1832Val | |
| NM_001386342.1:c.5270C>T (SBF2) | NP_001373271.1:p.Ala1757Val | |
| NM_030962.4:c.5399C>T (SBF2) MANE Select | NP_112224.1:p.Ala1800Val |