Linked Data
ClinVar Variation Id:
476933
dbSNP Id:
rs376668219
ExAC:
11:9810898 G / T
gnomAD v2:
11-9810898-G-T
gnomAD v3:
11-9789351-G-T
gnomAD v4:
11-9789351-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9789351G>T , CM000673.2:g.9789351G>T | GRCh38 |
| NC_000011.9:g.9810898G>T , CM000673.1:g.9810898G>T | GRCh37 |
| NC_000011.8:g.9767474G>T | NCBI36 |
| NG_008074.1:g.509857C>A , LRG_267:g.509857C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1183-9C>A (SBF2) | ||
| ENST00000532095.2:n.1235-9C>A (SBF2) | ||
| ENST00000675281.2:c.4774-9C>A (SBF2) | ENSP00000502491.1:n.4774-9C>A | |
| ENST00000676324.2:c.*1007-9C>A (SBF2) | ENSP00000502578.1:n.*1007-9C>A | |
| ENST00000676387.2:c.4756-9C>A (SBF2) | ENSP00000502779.1:n.4756-9C>A | |
| ENST00000688344.1:c.4306-9C>A (SBF2) | ENSP00000509987.1:n.4306-9C>A | |
| ENST00000689128.1:c.4795-9C>A (SBF2) | ENSP00000509587.1:n.4795-9C>A | |
| ENST00000689258.1:c.4636-9C>A (SBF2) | ENSP00000510475.1:n.4636-9C>A | |
| ENST00000689342.1:c.865-9C>A (SBF2) | ||
| ENST00000689356.1:n.1870-9C>A (SBF2) | ||
| ENST00000689597.1:c.3403-9C>A (SBF2) | ENSP00000510781.1:n.3403-9C>A | |
| ENST00000689940.1:c.4693-9C>A (SBF2) | ENSP00000508452.1:n.4693-9C>A | |
| ENST00000690944.1:c.779-9C>A (SBF2) | ||
| ENST00000691616.1:n.1175-9C>A (SBF2) | ||
| ENST00000692716.1:c.4570-9C>A (SBF2) | ENSP00000509545.1:n.4570-9C>A | |
| ENST00000693541.1:n.1618-9C>A (SBF2) | ||
| ENST00000256190.13:c.4699-9C>A (SBF2) MANE Select | ENSP00000256190.8:n.4699-9C>A | |
| ENST00000675281.1:c.4774-9C>A (SBF2) | ENSP00000502491.1:n.4774-9C>A | |
| ENST00000676324.1:c.*1007-9C>A (SBF2) | ENSP00000502578.1:n.*1007-9C>A | |
| ENST00000676387.1:c.4756-9C>A (SBF2) | ENSP00000502779.1:n.4756-9C>A | |
| ENST00000256190.12:c.4699-9C>A (SBF2) | ENSP00000256190.8:n.4699-9C>A | |
| ENST00000617179.4:c.4558-9C>A (SBF2) | ENSP00000482806.1:n.4558-9C>A | |
| NM_030962.3:c.4699-9C>A , LRG_267t1:c.4699-9C>A (SBF2) | NP_112224.1:n.4699-9C>A | |
| NR_036485.1:n.212-18497G>T (SBF2-AS1) | ||
| XM_005253154.3:c.4795-9C>A (SBF2) | XP_005253211.1:n.4795-9C>A | |
| XM_005253155.3:c.4666-9C>A (SBF2) | XP_005253212.1:n.4666-9C>A | |
| XM_011520394.1:c.4681-9C>A (SBF2) | XP_011518696.1:n.4681-9C>A | |
| XR_931024.1:n.456-1518G>T | ||
| XR_931025.1:n.271-1518G>T | ||
| XM_005253154.5:c.4795-9C>A (SBF2) | XP_005253211.1:n.4795-9C>A | |
| XM_005253155.5:c.4666-9C>A (SBF2) | XP_005253212.1:n.4666-9C>A | |
| XM_011520394.3:c.4681-9C>A (SBF2) | XP_011518696.1:n.4681-9C>A | |
| XM_017018372.2:c.4657-9C>A (SBF2) | XP_016873861.1:n.4657-9C>A | |
| XM_017018373.2:c.4657-9C>A (SBF2) | XP_016873862.1:n.4657-9C>A | |
| XM_017018374.2:c.4570-9C>A (SBF2) | XP_016873863.1:n.4570-9C>A | |
| XM_017018375.2:c.4558-9C>A (SBF2) | XP_016873864.1:n.4558-9C>A | |
| XR_001747994.2:n.4806-9C>A (SBF2) | ||
| NM_001386339.1:c.4795-9C>A (SBF2) | NP_001373268.1:n.4795-9C>A | |
| NM_001386342.1:c.4570-9C>A (SBF2) | NP_001373271.1:n.4570-9C>A | |
| NM_030962.4:c.4699-9C>A (SBF2) MANE Select | NP_112224.1:n.4699-9C>A |