Linked Data
dbSNP Id:
rs1852005325
gnomAD v4:
11-9781507-A-G
MyVariant Identifiers:
chr11:g.9803054A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9781507A>G , CM000673.2:g.9781507A>G | GRCh38 |
| NC_000011.9:g.9803054A>G , CM000673.1:g.9803054A>G | GRCh37 |
| NC_000011.8:g.9759630A>G | NCBI36 |
| NG_008074.1:g.517701T>C , LRG_267:g.517701T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1935T>C (SBF2) | ||
| ENST00000675281.2:c.5526T>C (SBF2) | ENSP00000502491.1:p.Asp1842= | |
| ENST00000676324.2:c.*1759T>C (SBF2) | ENSP00000502578.1:n.*1759T>C | |
| ENST00000676387.2:c.5508T>C (SBF2) | ENSP00000502779.1:p.Asp1836= | |
| ENST00000688344.1:c.5058T>C (SBF2) | ENSP00000509987.1:p.Asp1686= | |
| ENST00000689128.1:c.5547T>C (SBF2) | ENSP00000509587.1:p.Asp1849= | |
| ENST00000689258.1:c.5388T>C (SBF2) | ENSP00000510475.1:p.Asp1796= | |
| ENST00000689342.1:c.1617T>C (SBF2) | ||
| ENST00000689356.1:n.2622T>C (SBF2) | ||
| ENST00000689940.1:c.5445T>C (SBF2) | ENSP00000508452.1:p.Asp1815= | |
| ENST00000690437.1:n.1400T>C (SBF2) | ||
| ENST00000690944.1:c.1531T>C (SBF2) | ||
| ENST00000691616.1:n.1927T>C (SBF2) | ||
| ENST00000692716.1:c.5322T>C (SBF2) | ENSP00000509545.1:p.Asp1774= | |
| ENST00000693541.1:n.2370T>C (SBF2) | ||
| ENST00000256190.13:c.5451T>C (SBF2) MANE Select | ENSP00000256190.8:p.Asp1817= | |
| ENST00000675281.1:c.5526T>C (SBF2) | ENSP00000502491.1:p.Asp1842= | |
| ENST00000676324.1:c.*1759T>C (SBF2) | ENSP00000502578.1:n.*1759T>C | |
| ENST00000676387.1:c.5508T>C (SBF2) | ENSP00000502779.1:p.Asp1836= | |
| ENST00000256190.12:c.5451T>C (SBF2) | ENSP00000256190.8:p.Asp1817= | |
| ENST00000525040.5:n.754T>C (SBF2) | ||
| ENST00000617179.4:c.5310T>C (SBF2) | ENSP00000482806.1:p.Asp1770= | |
| NM_030962.3:c.5451T>C , LRG_267t1:c.5451T>C (SBF2) | NP_112224.1:p.Asp1817= | |
| NR_036485.1:n.211+23004A>G (SBF2-AS1) | ||
| XM_005253154.3:c.5547T>C (SBF2) | XP_005253211.1:p.Asp1849= | |
| XM_005253155.3:c.5418T>C (SBF2) | XP_005253212.1:p.Asp1806= | |
| XM_011520394.1:c.5433T>C (SBF2) | XP_011518696.1:p.Asp1811= | |
| XR_931024.1:n.200+932A>G | ||
| XR_931025.1:n.200+932A>G | ||
| XM_005253154.5:c.5547T>C (SBF2) | XP_005253211.1:p.Asp1849= | |
| XM_005253155.5:c.5418T>C (SBF2) | XP_005253212.1:p.Asp1806= | |
| XM_011520394.3:c.5433T>C (SBF2) | XP_011518696.1:p.Asp1811= | |
| XM_017018372.2:c.5409T>C (SBF2) | XP_016873861.1:p.Asp1803= | |
| XM_017018373.2:c.5409T>C (SBF2) | XP_016873862.1:p.Asp1803= | |
| XM_017018374.2:c.5322T>C (SBF2) | XP_016873863.1:p.Asp1774= | |
| XM_017018375.2:c.5310T>C (SBF2) | XP_016873864.1:p.Asp1770= | |
| XR_001747994.2:n.5558T>C (SBF2) | ||
| XR_001748470.1:n.200+932A>G | ||
| XR_001748471.1:n.85+932A>G | ||
| NM_001386339.1:c.5547T>C (SBF2) | NP_001373268.1:p.Asp1849= | |
| NM_001386342.1:c.5322T>C (SBF2) | NP_001373271.1:p.Asp1774= | |
| NM_030962.4:c.5451T>C (SBF2) MANE Select | NP_112224.1:p.Asp1817= |