gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90140955 (SAS)
Genomes Max Group AF
0.90140955 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32338202G>T , CM000668.2:g.32338202G>T | GRCh38 |
| NC_000006.11:g.32305979G>T , CM000668.1:g.32305979G>T | GRCh37 |
| NC_000006.10:g.32413957G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533191.6:c.361+777C>A (TSBP1) MANE Select | ENSP00000431199.1:n.361+777C>A | |
| ENST00000698834.1:c.204+777C>A (TSBP1) | ||
| ENST00000375007.8:c.403+777C>A (TSBP1) | ENSP00000364146.4:n.403+777C>A | |
| ENST00000375015.8:c.361+777C>A (TSBP1) | ENSP00000364155.4:n.361+777C>A | |
| ENST00000442822.6:c.340+777C>A (TSBP1) | ENSP00000411164.2:n.340+777C>A | |
| ENST00000447241.6:c.409+777C>A (TSBP1) | ENSP00000415517.2:n.409+777C>A | |
| ENST00000527965.5:c.340+777C>A (TSBP1) | ENSP00000435103.1:n.340+777C>A | |
| ENST00000532023.5:c.373+777C>A (TSBP1) | ENSP00000432814.1:n.373+777C>A | |
| ENST00000533191.5:c.361+777C>A (TSBP1) | ENSP00000431199.1:n.361+777C>A | |
| ENST00000534588.1:c.371-1567C>A (TSBP1) | ENSP00000432566.1:n.371-1567C>A | |
| ENST00000612031.4:c.409+777C>A (TSBP1) | ENSP00000480403.1:n.409+777C>A | |
| ENST00000617061.4:c.358+777C>A (TSBP1) | ENSP00000482001.1:n.358+777C>A | |
| NM_001286474.1:c.361+777C>A (TSBP1) | NP_001273403.1:n.361+777C>A | |
| NM_001286475.1:c.340+777C>A (TSBP1) | NP_001273404.1:n.340+777C>A | |
| NM_006781.4:c.409+777C>A (TSBP1) | NP_006772.3:n.409+777C>A | |
| XM_011514235.1:c.340+777C>A (TSBP1) | XP_011512537.1:n.340+777C>A | |
| XM_011514236.1:c.340+777C>A (TSBP1) | XP_011512538.1:n.340+777C>A | |
| XM_011514237.1:c.442+777C>A (TSBP1) | XP_011512539.1:n.442+777C>A | |
| XM_011514238.1:c.340+777C>A (TSBP1) | XP_011512540.1:n.340+777C>A | |
| XM_011514239.1:c.421+777C>A (TSBP1) | XP_011512541.1:n.421+777C>A | |
| XM_011514240.1:c.409+777C>A (TSBP1) | XP_011512542.1:n.409+777C>A | |
| XM_011514241.1:c.340+777C>A (TSBP1) | XP_011512543.1:n.340+777C>A | |
| XM_011514242.1:c.361+777C>A (TSBP1) | XP_011512544.1:n.361+777C>A | |
| XM_011514243.1:c.340+777C>A (TSBP1) | XP_011512545.1:n.340+777C>A | |
| XM_011514244.1:c.340+777C>A (TSBP1) | XP_011512546.1:n.340+777C>A | |
| XM_011514245.1:c.340+777C>A (TSBP1) | XP_011512547.1:n.340+777C>A | |
| XM_011514246.1:c.340+777C>A (TSBP1) | XP_011512548.1:n.340+777C>A | |
| XM_011515039.1:c.422-27578G>T (TSBP1-AS1) | XP_011513341.1:n.422-27578G>T | |
| XM_011515040.1:c.422-27578G>T (TSBP1-AS1) | XP_011513342.1:n.422-27578G>T | |
| NR_136244.1:n.441-27578G>T (TSBP1-AS1) | ||
| NR_136245.1:n.243-27578G>T (TSBP1-AS1) | ||
| NR_136246.1:n.243-11310G>T (TSBP1-AS1) | ||
| XM_017010182.1:c.4+777C>A (TSBP1) | XP_016865671.1:n.4+777C>A | |
| XM_017010183.1:c.101+777C>A (TSBP1) | XP_016865672.1:n.101+777C>A | |
| XM_024446306.1:c.101+777C>A (TSBP1) | XP_024302074.1:n.101+777C>A | |
| XM_024446307.1:c.442+777C>A (TSBP1) | XP_024302075.1:n.442+777C>A | |
| NM_001286474.2:c.361+777C>A (TSBP1) MANE Select | NP_001273403.1:n.361+777C>A | |
| NM_001286475.2:c.340+777C>A (TSBP1) | NP_001273404.1:n.340+777C>A | |
| NM_006781.5:c.409+777C>A (TSBP1) | NP_006772.3:n.409+777C>A |