Linked Data
dbSNP Id:
rs763690558
gnomAD v2:
6-32282763-G-T
gnomAD v3:
6-32314986-G-T
gnomAD v4:
6-32314986-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32314986G>T , CM000668.2:g.32314986G>T | GRCh38 |
| NC_000006.11:g.32282763G>T , CM000668.1:g.32282763G>T | GRCh37 |
| NC_000006.10:g.32390741G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000533191.6:c.574+786C>A (TSBP1) MANE Select | ENSP00000431199.1:n.574+786C>A | |
| ENST00000698834.1:c.441+786C>A (TSBP1) | ||
| ENST00000375007.8:c.574+7500C>A (TSBP1) | ENSP00000364146.4:n.574+7500C>A | |
| ENST00000375015.8:c.577+1408C>A (TSBP1) | ENSP00000364155.4:n.577+1408C>A | |
| ENST00000442822.6:c.553+786C>A (TSBP1) | ENSP00000411164.2:n.553+786C>A | |
| ENST00000447241.6:c.580+7500C>A (TSBP1) | ENSP00000415517.2:n.580+7500C>A | |
| ENST00000527965.5:c.532+1408C>A (TSBP1) | ENSP00000435103.1:n.532+1408C>A | |
| ENST00000533191.5:c.574+786C>A (TSBP1) | ENSP00000431199.1:n.574+786C>A | |
| ENST00000612031.4:c.580+786C>A (TSBP1) | ENSP00000480403.1:n.580+786C>A | |
| ENST00000617061.4:c.571+1408C>A (TSBP1) | ENSP00000482001.1:n.571+1408C>A | |
| NM_001286474.1:c.574+786C>A (TSBP1) | NP_001273403.1:n.574+786C>A | |
| NM_001286475.1:c.532+1408C>A (TSBP1) | NP_001273404.1:n.532+1408C>A | |
| NM_006781.4:c.580+7500C>A (TSBP1) | NP_006772.3:n.580+7500C>A | |
| XM_011514235.1:c.578-316C>A (TSBP1) | XP_011512537.1:n.578-316C>A | |
| XM_011514236.1:c.578-316C>A (TSBP1) | XP_011512538.1:n.578-316C>A | |
| XM_011514237.1:c.613+7500C>A (TSBP1) | XP_011512539.1:n.613+7500C>A | |
| XM_011514238.1:c.554-316C>A (TSBP1) | XP_011512540.1:n.554-316C>A | |
| XM_011514239.1:c.592+7500C>A (TSBP1) | XP_011512541.1:n.592+7500C>A | |
| XM_011514240.1:c.580+7500C>A (TSBP1) | XP_011512542.1:n.580+7500C>A | |
| XM_011514241.1:c.577+786C>A (TSBP1) | XP_011512543.1:n.577+786C>A | |
| XM_011514242.1:c.574+786C>A (TSBP1) | XP_011512544.1:n.574+786C>A | |
| XM_011514243.1:c.556+1408C>A (TSBP1) | XP_011512545.1:n.556+1408C>A | |
| XM_011514244.1:c.553+786C>A (TSBP1) | XP_011512546.1:n.553+786C>A | |
| XM_011514245.1:c.535+7500C>A (TSBP1) | XP_011512547.1:n.535+7500C>A | |
| XM_011514246.1:c.532+1408C>A (TSBP1) | XP_011512548.1:n.532+1408C>A | |
| XM_011515039.1:c.422-50794G>T (TSBP1-AS1) | XP_011513341.1:n.422-50794G>T | |
| XM_011515040.1:c.422-50794G>T (TSBP1-AS1) | XP_011513342.1:n.422-50794G>T | |
| NR_136244.1:n.441-50794G>T (TSBP1-AS1) | ||
| NR_136245.1:n.243-50794G>T (TSBP1-AS1) | ||
| NR_136246.1:n.243-34526G>T (TSBP1-AS1) | ||
| XM_017010182.1:c.242-316C>A (TSBP1) | XP_016865671.1:n.242-316C>A | |
| XM_017010183.1:c.314+786C>A (TSBP1) | XP_016865672.1:n.314+786C>A | |
| XM_024446306.1:c.338+786C>A (TSBP1) | XP_024302074.1:n.338+786C>A | |
| XM_024446307.1:c.656-316C>A (TSBP1) | XP_024302075.1:n.656-316C>A | |
| NM_001286474.2:c.574+786C>A (TSBP1) MANE Select | NP_001273403.1:n.574+786C>A | |
| NM_001286475.2:c.532+1408C>A (TSBP1) | NP_001273404.1:n.532+1408C>A | |
| NM_006781.5:c.580+7500C>A (TSBP1) | NP_006772.3:n.580+7500C>A |