gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00089484 (MID)
Genomes Max Group AF
0.00054093 (SAS)
Exomes Max Group AF
0.00094042 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64156077G>A , CM000677.2:g.64156077G>A | GRCh38 |
| NC_000015.9:g.64448276G>A , CM000677.1:g.64448276G>A | GRCh37 |
| NC_000015.8:g.62235329G>A | NCBI36 |
| NG_012979.1:g.12079C>T , LRG_10:g.12079C>T | |
| NG_033071.1:g.9361G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.597C>T (PPIB) MANE Select | ENSP00000300026.4:p.Ile199= | |
| ENST00000325881.9:c.*1569G>A (SNX22) MANE Select | ENSP00000323435.4:n.*1569G>A | |
| ENST00000561048.2:n.3824C>T (PPIB) | ||
| ENST00000680158.1:c.*270C>T (PPIB) | ENSP00000504873.1:n.*270C>T | |
| ENST00000680343.1:n.551C>T (PPIB) | ||
| ENST00000681397.1:c.597C>T (PPIB) | ENSP00000506584.1:p.Ile199= | |
| ENST00000681658.1:c.492C>T (PPIB) | ENSP00000505431.1:p.Ile164= | |
| ENST00000300026.3:c.597C>T (PPIB) | ENSP00000300026.3:p.Ile199= | |
| ENST00000325881.8:c.*1569G>A (SNX22) | ENSP00000323435.4:n.*1569G>A | |
| ENST00000557789.5:n.2309G>A (SNX22) | ||
| ENST00000560997.1:n.1964G>A (SNX22) | ||
| NM_000942.4:c.597C>T , LRG_10t1:c.597C>T (PPIB) | NP_000933.1:p.Ile199= | |
| NM_024798.2:c.*1569G>A (SNX22) | NP_079074.2:n.*1569G>A | |
| NR_073534.1:n.2257G>A (SNX22) | ||
| XM_017022581.1:c.*1569G>A (SNX22) | XP_016878070.1:n.*1569G>A | |
| NM_024798.3:c.*1569G>A (SNX22) MANE Select | NP_079074.2:n.*1569G>A | |
| NM_000942.5:c.597C>T (PPIB) MANE Select | NP_000933.1:p.Ile199= | |
| NR_073534.2:n.2243G>A (SNX22) |