Linked Data
ClinVar Variation Id:
403859
ClinVar RCV Id:
RCV000471492
dbSNP Id:
rs1060499999
gnomAD v4:
11-9787633-C-T
COSMIC:
COSM5816187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9787633C>T , CM000673.2:g.9787633C>T | GRCh38 |
| NC_000011.9:g.9809180C>T , CM000673.1:g.9809180C>T | GRCh37 |
| NC_000011.8:g.9765756C>T | NCBI36 |
| NG_008074.1:g.511575G>A , LRG_267:g.511575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1521+1G>A (SBF2) | ||
| ENST00000532095.2:n.1573+1G>A (SBF2) | ||
| ENST00000675281.2:c.5112+1G>A (SBF2) | ENSP00000502491.1:n.5112+1G>A | |
| ENST00000676324.2:c.*1345+1G>A (SBF2) | ENSP00000502578.1:n.*1345+1G>A | |
| ENST00000676387.2:c.5094+1G>A (SBF2) | ENSP00000502779.1:n.5094+1G>A | |
| ENST00000688344.1:c.4644+1G>A (SBF2) | ENSP00000509987.1:n.4644+1G>A | |
| ENST00000689128.1:c.5133+1G>A (SBF2) | ENSP00000509587.1:n.5133+1G>A | |
| ENST00000689258.1:c.4974+1G>A (SBF2) | ENSP00000510475.1:n.4974+1G>A | |
| ENST00000689342.1:c.1203+1G>A (SBF2) | ||
| ENST00000689356.1:n.2208+1G>A (SBF2) | ||
| ENST00000689597.1:c.3741+1G>A (SBF2) | ENSP00000510781.1:n.3741+1G>A | |
| ENST00000689940.1:c.5031+1G>A (SBF2) | ENSP00000508452.1:n.5031+1G>A | |
| ENST00000690944.1:c.1117+1G>A (SBF2) | ||
| ENST00000691616.1:n.1513+1G>A (SBF2) | ||
| ENST00000692716.1:c.4908+1G>A (SBF2) | ENSP00000509545.1:n.4908+1G>A | |
| ENST00000693541.1:n.1956+1G>A (SBF2) | ||
| ENST00000256190.13:c.5037+1G>A (SBF2) MANE Select | ENSP00000256190.8:n.5037+1G>A | |
| ENST00000675281.1:c.5112+1G>A (SBF2) | ENSP00000502491.1:n.5112+1G>A | |
| ENST00000676324.1:c.*1345+1G>A (SBF2) | ENSP00000502578.1:n.*1345+1G>A | |
| ENST00000676387.1:c.5094+1G>A (SBF2) | ENSP00000502779.1:n.5094+1G>A | |
| ENST00000256190.12:c.5037+1G>A (SBF2) | ENSP00000256190.8:n.5037+1G>A | |
| ENST00000525040.5:n.340+1G>A (SBF2) | ||
| ENST00000532095.1:c.201+1G>A (SBF2) | ENSP00000434620.1:n.201+1G>A | |
| ENST00000617179.4:c.4896+1G>A (SBF2) | ENSP00000482806.1:n.4896+1G>A | |
| NM_030962.3:c.5037+1G>A , LRG_267t1:c.5037+1G>A (SBF2) | NP_112224.1:n.5037+1G>A | |
| NR_036485.1:n.212-20215C>T (SBF2-AS1) | ||
| XM_005253154.3:c.5133+1G>A (SBF2) | XP_005253211.1:n.5133+1G>A | |
| XM_005253155.3:c.5004+1G>A (SBF2) | XP_005253212.1:n.5004+1G>A | |
| XM_011520394.1:c.5019+1G>A (SBF2) | XP_011518696.1:n.5019+1G>A | |
| XR_931024.1:n.455+2857C>T | ||
| XR_931025.1:n.271-3236C>T | ||
| XM_005253154.5:c.5133+1G>A (SBF2) | XP_005253211.1:n.5133+1G>A | |
| XM_005253155.5:c.5004+1G>A (SBF2) | XP_005253212.1:n.5004+1G>A | |
| XM_011520394.3:c.5019+1G>A (SBF2) | XP_011518696.1:n.5019+1G>A | |
| XM_017018372.2:c.4995+1G>A (SBF2) | XP_016873861.1:n.4995+1G>A | |
| XM_017018373.2:c.4995+1G>A (SBF2) | XP_016873862.1:n.4995+1G>A | |
| XM_017018374.2:c.4908+1G>A (SBF2) | XP_016873863.1:n.4908+1G>A | |
| XM_017018375.2:c.4896+1G>A (SBF2) | XP_016873864.1:n.4896+1G>A | |
| XR_001747994.2:n.5144+1G>A (SBF2) | ||
| NM_001386339.1:c.5133+1G>A (SBF2) | NP_001373268.1:n.5133+1G>A | |
| NM_001386342.1:c.4908+1G>A (SBF2) | NP_001373271.1:n.4908+1G>A | |
| NM_030962.4:c.5037+1G>A (SBF2) MANE Select | NP_112224.1:n.5037+1G>A |