Linked Data
dbSNP Id:
rs531004437
gnomAD v2:
6-32337534-C-G
gnomAD v3:
6-32369757-C-G
gnomAD v4:
6-32369757-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32369757C>G , CM000668.2:g.32369757C>G | GRCh38 |
| NC_000006.11:g.32337534C>G , CM000668.1:g.32337534C>G | GRCh37 |
| NC_000006.10:g.32445512C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533191.6:c.100+140G>C (TSBP1) MANE Select | ENSP00000431199.1:n.100+140G>C | |
| ENST00000375007.8:c.100+140G>C (TSBP1) | ENSP00000364146.4:n.100+140G>C | |
| ENST00000375015.8:c.100+140G>C (TSBP1) | ENSP00000364155.4:n.100+140G>C | |
| ENST00000442822.6:c.100+140G>C (TSBP1) | ENSP00000411164.2:n.100+140G>C | |
| ENST00000447241.6:c.100+140G>C (TSBP1) | ENSP00000415517.2:n.100+140G>C | |
| ENST00000527965.5:c.100+140G>C (TSBP1) | ENSP00000435103.1:n.100+140G>C | |
| ENST00000532023.5:c.100+140G>C (TSBP1) | ENSP00000432814.1:n.100+140G>C | |
| ENST00000533191.5:c.100+140G>C (TSBP1) | ENSP00000431199.1:n.100+140G>C | |
| ENST00000534588.1:c.100+140G>C (TSBP1) | ENSP00000432566.1:n.100+140G>C | |
| ENST00000612031.4:c.100+140G>C (TSBP1) | ENSP00000480403.1:n.100+140G>C | |
| ENST00000617061.4:c.100+140G>C (TSBP1) | ENSP00000482001.1:n.100+140G>C | |
| NM_001286474.1:c.100+140G>C (TSBP1) | NP_001273403.1:n.100+140G>C | |
| NM_001286475.1:c.100+140G>C (TSBP1) | NP_001273404.1:n.100+140G>C | |
| NM_006781.4:c.100+140G>C (TSBP1) | NP_006772.3:n.100+140G>C | |
| XM_011514235.1:c.100+140G>C (TSBP1) | XP_011512537.1:n.100+140G>C | |
| XM_011514236.1:c.100+140G>C (TSBP1) | XP_011512538.1:n.100+140G>C | |
| XM_011514237.1:c.100+140G>C (TSBP1) | XP_011512539.1:n.100+140G>C | |
| XM_011514238.1:c.100+140G>C (TSBP1) | XP_011512540.1:n.100+140G>C | |
| XM_011514239.1:c.100+140G>C (TSBP1) | XP_011512541.1:n.100+140G>C | |
| XM_011514240.1:c.100+140G>C (TSBP1) | XP_011512542.1:n.100+140G>C | |
| XM_011514241.1:c.100+140G>C (TSBP1) | XP_011512543.1:n.100+140G>C | |
| XM_011514242.1:c.100+140G>C (TSBP1) | XP_011512544.1:n.100+140G>C | |
| XM_011514243.1:c.100+140G>C (TSBP1) | XP_011512545.1:n.100+140G>C | |
| XM_011514244.1:c.100+140G>C (TSBP1) | XP_011512546.1:n.100+140G>C | |
| XM_011514245.1:c.100+140G>C (TSBP1) | XP_011512547.1:n.100+140G>C | |
| XM_011514246.1:c.100+140G>C (TSBP1) | XP_011512548.1:n.100+140G>C | |
| XM_011515039.1:c.481+3918C>G (TSBP1-AS1) | XP_011513341.1:n.481+3918C>G | |
| XM_011515040.1:c.481+3918C>G (TSBP1-AS1) | XP_011513342.1:n.481+3918C>G | |
| NR_136244.1:n.500+3918C>G (TSBP1-AS1) | ||
| NR_136245.1:n.302+3918C>G (TSBP1-AS1) | ||
| XM_024446307.1:c.100+140G>C (TSBP1) | XP_024302075.1:n.100+140G>C | |
| NM_001286474.2:c.100+140G>C (TSBP1) MANE Select | NP_001273403.1:n.100+140G>C | |
| NM_001286475.2:c.100+140G>C (TSBP1) | NP_001273404.1:n.100+140G>C | |
| NM_006781.5:c.100+140G>C (TSBP1) | NP_006772.3:n.100+140G>C |