Linked Data
dbSNP Id:
rs188815775
gnomAD v2:
6-32282896-G-A
gnomAD v3:
6-32315119-G-A
gnomAD v4:
6-32315119-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32315119G>A , CM000668.2:g.32315119G>A | GRCh38 |
| NC_000006.11:g.32282896G>A , CM000668.1:g.32282896G>A | GRCh37 |
| NC_000006.10:g.32390874G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533191.6:c.574+653C>T (TSBP1) MANE Select | ENSP00000431199.1:n.574+653C>T | |
| ENST00000698834.1:c.441+653C>T (TSBP1) | ||
| ENST00000375007.8:c.574+7367C>T (TSBP1) | ENSP00000364146.4:n.574+7367C>T | |
| ENST00000375015.8:c.577+1275C>T (TSBP1) | ENSP00000364155.4:n.577+1275C>T | |
| ENST00000442822.6:c.553+653C>T (TSBP1) | ENSP00000411164.2:n.553+653C>T | |
| ENST00000447241.6:c.580+7367C>T (TSBP1) | ENSP00000415517.2:n.580+7367C>T | |
| ENST00000527965.5:c.532+1275C>T (TSBP1) | ENSP00000435103.1:n.532+1275C>T | |
| ENST00000533191.5:c.574+653C>T (TSBP1) | ENSP00000431199.1:n.574+653C>T | |
| ENST00000612031.4:c.580+653C>T (TSBP1) | ENSP00000480403.1:n.580+653C>T | |
| ENST00000617061.4:c.571+1275C>T (TSBP1) | ENSP00000482001.1:n.571+1275C>T | |
| NM_001286474.1:c.574+653C>T (TSBP1) | NP_001273403.1:n.574+653C>T | |
| NM_001286475.1:c.532+1275C>T (TSBP1) | NP_001273404.1:n.532+1275C>T | |
| NM_006781.4:c.580+7367C>T (TSBP1) | NP_006772.3:n.580+7367C>T | |
| XM_011514235.1:c.578-449C>T (TSBP1) | XP_011512537.1:n.578-449C>T | |
| XM_011514236.1:c.578-449C>T (TSBP1) | XP_011512538.1:n.578-449C>T | |
| XM_011514237.1:c.613+7367C>T (TSBP1) | XP_011512539.1:n.613+7367C>T | |
| XM_011514238.1:c.554-449C>T (TSBP1) | XP_011512540.1:n.554-449C>T | |
| XM_011514239.1:c.592+7367C>T (TSBP1) | XP_011512541.1:n.592+7367C>T | |
| XM_011514240.1:c.580+7367C>T (TSBP1) | XP_011512542.1:n.580+7367C>T | |
| XM_011514241.1:c.577+653C>T (TSBP1) | XP_011512543.1:n.577+653C>T | |
| XM_011514242.1:c.574+653C>T (TSBP1) | XP_011512544.1:n.574+653C>T | |
| XM_011514243.1:c.556+1275C>T (TSBP1) | XP_011512545.1:n.556+1275C>T | |
| XM_011514244.1:c.553+653C>T (TSBP1) | XP_011512546.1:n.553+653C>T | |
| XM_011514245.1:c.535+7367C>T (TSBP1) | XP_011512547.1:n.535+7367C>T | |
| XM_011514246.1:c.532+1275C>T (TSBP1) | XP_011512548.1:n.532+1275C>T | |
| XM_011515039.1:c.422-50661G>A (TSBP1-AS1) | XP_011513341.1:n.422-50661G>A | |
| XM_011515040.1:c.422-50661G>A (TSBP1-AS1) | XP_011513342.1:n.422-50661G>A | |
| NR_136244.1:n.441-50661G>A (TSBP1-AS1) | ||
| NR_136245.1:n.243-50661G>A (TSBP1-AS1) | ||
| NR_136246.1:n.243-34393G>A (TSBP1-AS1) | ||
| XM_017010182.1:c.242-449C>T (TSBP1) | XP_016865671.1:n.242-449C>T | |
| XM_017010183.1:c.314+653C>T (TSBP1) | XP_016865672.1:n.314+653C>T | |
| XM_024446306.1:c.338+653C>T (TSBP1) | XP_024302074.1:n.338+653C>T | |
| XM_024446307.1:c.656-449C>T (TSBP1) | XP_024302075.1:n.656-449C>T | |
| NM_001286474.2:c.574+653C>T (TSBP1) MANE Select | NP_001273403.1:n.574+653C>T | |
| NM_001286475.2:c.532+1275C>T (TSBP1) | NP_001273404.1:n.532+1275C>T | |
| NM_006781.5:c.580+7367C>T (TSBP1) | NP_006772.3:n.580+7367C>T |