gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79470255 (SAS)
Genomes Max Group AF
0.79470255 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32289789G>A , CM000668.2:g.32289789G>A | GRCh38 |
| NC_000006.11:g.32257566G>A , CM000668.1:g.32257566G>A | GRCh37 |
| NC_000006.10:g.32365544G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442822.6:c.1360-1120C>T (TSBP1) | ENSP00000411164.2:n.1360-1120C>T | |
| XM_011514236.1:c.*1487-863C>T (TSBP1) | XP_011512538.1:n.*1487-863C>T | |
| XM_011515039.1:c.421+26980G>A (TSBP1-AS1) | XP_011513341.1:n.421+26980G>A | |
| XM_011515040.1:c.421+26980G>A (TSBP1-AS1) | XP_011513342.1:n.421+26980G>A | |
| NR_136244.1:n.440+26980G>A (TSBP1-AS1) | ||
| NR_136245.1:n.242+34375G>A (TSBP1-AS1) | ||
| NR_136246.1:n.242+34375G>A (TSBP1-AS1) |