Linked Data
dbSNP Id:
rs7775397
ExAC:
6:32261252 T / G
gnomAD v2:
6-32261252-T-G
gnomAD v3:
6-32293475-T-G
gnomAD v4:
6-32293475-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32293475T>G , CM000668.2:g.32293475T>G | GRCh38 |
| NC_000006.11:g.32261252T>G , CM000668.1:g.32261252T>G | GRCh37 |
| NC_000006.10:g.32369230T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000533191.6:c.1192A>C (TSBP1) MANE Select | ENSP00000431199.1:p.Lys398Gln | |
| ENST00000375007.8:c.1192A>C (TSBP1) | ENSP00000364146.4:p.Lys398Gln | |
| ENST00000375015.8:c.1195A>C (TSBP1) | ENSP00000364155.4:p.Lys399Gln | |
| ENST00000442822.6:c.1171A>C (TSBP1) | ENSP00000411164.2:p.Lys391Gln | |
| ENST00000447241.6:c.1198A>C (TSBP1) | ENSP00000415517.2:p.Lys400Gln | |
| ENST00000527965.5:c.1150A>C (TSBP1) | ENSP00000435103.1:p.Lys384Gln | |
| ENST00000533191.5:c.1192A>C (TSBP1) | ENSP00000431199.1:p.Lys398Gln | |
| ENST00000612031.4:c.1198A>C (TSBP1) | ENSP00000480403.1:p.Lys400Gln | |
| ENST00000617061.4:c.1183A>C (TSBP1) | ENSP00000482001.1:p.Lys395Gln | |
| NM_001286474.1:c.1192A>C (TSBP1) | NP_001273403.1:p.Lys398Gln | |
| NM_001286475.1:c.1150A>C (TSBP1) | NP_001273404.1:p.Lys384Gln | |
| NM_006781.4:c.1198A>C (TSBP1) | NP_006772.3:p.Lys400Gln | |
| XM_011514235.1:c.1252A>C (TSBP1) | XP_011512537.1:p.Lys418Gln | |
| XM_011514236.1:c.1252A>C (TSBP1) | XP_011512538.1:p.Lys418Gln | |
| XM_011514237.1:c.1231A>C (TSBP1) | XP_011512539.1:p.Lys411Gln | |
| XM_011514238.1:c.1228A>C (TSBP1) | XP_011512540.1:p.Lys410Gln | |
| XM_011514239.1:c.1210A>C (TSBP1) | XP_011512541.1:p.Lys404Gln | |
| XM_011514240.1:c.1198A>C (TSBP1) | XP_011512542.1:p.Lys400Gln | |
| XM_011514241.1:c.1195A>C (TSBP1) | XP_011512543.1:p.Lys399Gln | |
| XM_011514242.1:c.1192A>C (TSBP1) | XP_011512544.1:p.Lys398Gln | |
| XM_011514243.1:c.1174A>C (TSBP1) | XP_011512545.1:p.Lys392Gln | |
| XM_011514244.1:c.1171A>C (TSBP1) | XP_011512546.1:p.Lys391Gln | |
| XM_011514245.1:c.1153A>C (TSBP1) | XP_011512547.1:p.Lys385Gln | |
| XM_011514246.1:c.1150A>C (TSBP1) | XP_011512548.1:p.Lys384Gln | |
| XM_011515039.1:c.421+30666T>G (TSBP1-AS1) | XP_011513341.1:n.421+30666T>G | |
| XM_011515040.1:c.421+30666T>G (TSBP1-AS1) | XP_011513342.1:n.421+30666T>G | |
| NR_136244.1:n.440+30666T>G (TSBP1-AS1) | ||
| NR_136245.1:n.242+38061T>G (TSBP1-AS1) | ||
| NR_136246.1:n.242+38061T>G (TSBP1-AS1) | ||
| XM_017010182.1:c.916A>C (TSBP1) | XP_016865671.1:p.Lys306Gln | |
| XM_024446307.1:c.1330A>C (TSBP1) | XP_024302075.1:p.Lys444Gln | |
| NM_001286474.2:c.1192A>C (TSBP1) MANE Select | NP_001273403.1:p.Lys398Gln | |
| NM_001286475.2:c.1150A>C (TSBP1) | NP_001273404.1:p.Lys384Gln | |
| NM_006781.5:c.1198A>C (TSBP1) | NP_006772.3:p.Lys400Gln |