gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6024174 (SAS)
Genomes Max Group AF
0.59817034 (SAS)
Exomes Max Group AF
0.59406274 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159044945T>C , CM000668.2:g.159044945T>C | GRCh38 |
| NC_000006.11:g.159465977T>C , CM000668.1:g.159465977T>C | GRCh37 |
| NC_000006.10:g.159385965T>C | NCBI36 |
| NG_011524.1:g.5208A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326965.7:c.-492A>G (TAGAP) | ENSP00000322650.6:n.-492A>G | |
| ENST00000367066.8:c.-125A>G (TAGAP) MANE Select | ENSP00000356033.4:n.-125A>G | |
| ENST00000642909.1:c.-125A>G (TAGAP) | ENSP00000495465.1:n.-125A>G | |
| ENST00000326965.6:c.-492A>G (TAGAP) | ENSP00000322650.6:n.-492A>G | |
| ENST00000338313.5:c.-125A>G (TAGAP) | ENSP00000340217.5:n.-125A>G | |
| ENST00000367066.7:c.-125A>G (TAGAP) | ENSP00000356033.3:n.-125A>G | |
| NM_054114.4:c.-125A>G (TAGAP) | NP_473455.2:n.-125A>G | |
| NM_138810.3:c.-125A>G (TAGAP) | NP_620165.1:n.-125A>G | |
| NM_152133.2:c.-492A>G (TAGAP) | NP_687034.1:n.-492A>G | |
| XR_943171.1:n.58-474T>C | ||
| XR_001744430.2:n.1246+2637T>C (TAGAP-AS1) | ||
| NM_054114.5:c.-125A>G (TAGAP) MANE Select | NP_473455.2:n.-125A>G | |
| NM_138810.4:c.-125A>G (TAGAP) | NP_620165.1:n.-125A>G | |
| NM_152133.3:c.-492A>G (TAGAP) | NP_687034.1:n.-492A>G |