gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82375076 (AFR)
Genomes Max Group AF
0.82375076 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34877672T>G , CM000668.2:g.34877672T>G | GRCh38 |
| NC_000006.11:g.34845449T>G , CM000668.1:g.34845449T>G | GRCh37 |
| NC_000006.10:g.34953427T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000693593.1:c.2157A>C (TAF11) | ENSP00000508854.1:n.2157A>C | |
| ENST00000361288.9:c.*918A>C (TAF11) MANE Select | ENSP00000354633.4:n.*918A>C | |
| ENST00000650109.1:c.*1062A>C (TAF11) | ENSP00000497996.1:n.*1062A>C | |
| ENST00000452449.6:c.4198-2337T>G (BLTP3A) | ENSP00000400628.2:n.4198-2337T>G | |
| NM_005643.4:c.*918A>C (TAF11) MANE Select | NP_005634.1:n.*918A>C |