Linked Data
ClinVar Variation Id:
138966
ClinVar RCV Id:
RCV002055785
dbSNP Id:
rs75447733
ExAC:
11:9809300 A / G
gnomAD v2:
11-9809300-A-G
gnomAD v3:
11-9787753-A-G
gnomAD v4:
11-9787753-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9787753A>G , CM000673.2:g.9787753A>G | GRCh38 |
| NC_000011.9:g.9809300A>G , CM000673.1:g.9809300A>G | GRCh37 |
| NC_000011.8:g.9765876A>G | NCBI36 |
| NG_008074.1:g.511455T>C , LRG_267:g.511455T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524961.6:n.1417-15T>C (SBF2) | ||
| ENST00000532095.2:n.1469-15T>C (SBF2) | ||
| ENST00000675281.2:c.5008-15T>C (SBF2) | ENSP00000502491.1:n.5008-15T>C | |
| ENST00000676324.2:c.*1241-15T>C (SBF2) | ENSP00000502578.1:n.*1241-15T>C | |
| ENST00000676387.2:c.4990-15T>C (SBF2) | ENSP00000502779.1:n.4990-15T>C | |
| ENST00000688344.1:c.4540-15T>C (SBF2) | ENSP00000509987.1:n.4540-15T>C | |
| ENST00000689128.1:c.5029-15T>C (SBF2) | ENSP00000509587.1:n.5029-15T>C | |
| ENST00000689258.1:c.4870-15T>C (SBF2) | ENSP00000510475.1:n.4870-15T>C | |
| ENST00000689342.1:c.1099-15T>C (SBF2) | ||
| ENST00000689356.1:n.2104-15T>C (SBF2) | ||
| ENST00000689597.1:c.3637-15T>C (SBF2) | ENSP00000510781.1:n.3637-15T>C | |
| ENST00000689940.1:c.4927-15T>C (SBF2) | ENSP00000508452.1:n.4927-15T>C | |
| ENST00000690944.1:c.1013-15T>C (SBF2) | ||
| ENST00000691616.1:n.1409-15T>C (SBF2) | ||
| ENST00000692716.1:c.4804-15T>C (SBF2) | ENSP00000509545.1:n.4804-15T>C | |
| ENST00000693541.1:n.1852-15T>C (SBF2) | ||
| ENST00000256190.13:c.4933-15T>C (SBF2) MANE Select | ENSP00000256190.8:n.4933-15T>C | |
| ENST00000675281.1:c.5008-15T>C (SBF2) | ENSP00000502491.1:n.5008-15T>C | |
| ENST00000676324.1:c.*1241-15T>C (SBF2) | ENSP00000502578.1:n.*1241-15T>C | |
| ENST00000676387.1:c.4990-15T>C (SBF2) | ENSP00000502779.1:n.4990-15T>C | |
| ENST00000256190.12:c.4933-15T>C (SBF2) | ENSP00000256190.8:n.4933-15T>C | |
| ENST00000525040.5:n.221T>C (SBF2) | ||
| ENST00000532095.1:c.97-15T>C (SBF2) | ENSP00000434620.1:n.97-15T>C | |
| ENST00000617179.4:c.4792-15T>C (SBF2) | ENSP00000482806.1:n.4792-15T>C | |
| NM_030962.3:c.4933-15T>C , LRG_267t1:c.4933-15T>C (SBF2) | NP_112224.1:n.4933-15T>C | |
| NR_036485.1:n.212-20095A>G (SBF2-AS1) | ||
| XM_005253154.3:c.5029-15T>C (SBF2) | XP_005253211.1:n.5029-15T>C | |
| XM_005253155.3:c.4900-15T>C (SBF2) | XP_005253212.1:n.4900-15T>C | |
| XM_011520394.1:c.4915-15T>C (SBF2) | XP_011518696.1:n.4915-15T>C | |
| XR_931024.1:n.455+2977A>G | ||
| XR_931025.1:n.271-3116A>G | ||
| XM_005253154.5:c.5029-15T>C (SBF2) | XP_005253211.1:n.5029-15T>C | |
| XM_005253155.5:c.4900-15T>C (SBF2) | XP_005253212.1:n.4900-15T>C | |
| XM_011520394.3:c.4915-15T>C (SBF2) | XP_011518696.1:n.4915-15T>C | |
| XM_017018372.2:c.4891-15T>C (SBF2) | XP_016873861.1:n.4891-15T>C | |
| XM_017018373.2:c.4891-15T>C (SBF2) | XP_016873862.1:n.4891-15T>C | |
| XM_017018374.2:c.4804-15T>C (SBF2) | XP_016873863.1:n.4804-15T>C | |
| XM_017018375.2:c.4792-15T>C (SBF2) | XP_016873864.1:n.4792-15T>C | |
| XR_001747994.2:n.5040-15T>C (SBF2) | ||
| NM_001386339.1:c.5029-15T>C (SBF2) | NP_001373268.1:n.5029-15T>C | |
| NM_001386342.1:c.4804-15T>C (SBF2) | NP_001373271.1:n.4804-15T>C | |
| NM_030962.4:c.4933-15T>C (SBF2) MANE Select | NP_112224.1:n.4933-15T>C |