gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3826056 (EAS)
Genomes Max Group AF
0.39054567 (EAS)
Exomes Max Group AF
0.18084678 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159035343A>G , CM000668.2:g.159035343A>G | GRCh38 |
| NC_000006.11:g.159456375A>G , CM000668.1:g.159456375A>G | GRCh37 |
| NC_000006.10:g.159376363A>G | NCBI36 |
| NG_011524.1:g.14810T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326965.7:c.*484T>C (TAGAP) | ENSP00000322650.6:n.*484T>C | |
| ENST00000367066.8:c.*484T>C (TAGAP) MANE Select | ENSP00000356033.4:n.*484T>C | |
| ENST00000642909.1:c.*2339T>C (TAGAP) | ENSP00000495465.1:n.*2339T>C | |
| ENST00000326965.6:c.*484T>C (TAGAP) | ENSP00000322650.6:n.*484T>C | |
| ENST00000367066.7:c.*484T>C (TAGAP) | ENSP00000356033.3:n.*484T>C | |
| NM_001278733.1:c.*484T>C (TAGAP) | NP_001265662.1:n.*484T>C | |
| NM_054114.4:c.*484T>C (TAGAP) | NP_473455.2:n.*484T>C | |
| NM_152133.2:c.*484T>C (TAGAP) | NP_687034.1:n.*484T>C | |
| XR_943174.1:n.582-5576A>G (TAGAP-AS1) | ||
| XR_001744428.2:n.445-5576A>G (TAGAP-AS1) | ||
| XR_001744429.1:n.599-5576A>G (TAGAP-AS1) | ||
| XR_001744430.2:n.599-5576A>G (TAGAP-AS1) | ||
| XR_002956373.1:n.458-5576A>G (TAGAP-AS1) | ||
| XR_943174.2:n.599-5576A>G (TAGAP-AS1) | ||
| NM_001278733.2:c.*484T>C (TAGAP) | NP_001265662.1:n.*484T>C | |
| NM_054114.5:c.*484T>C (TAGAP) MANE Select | NP_473455.2:n.*484T>C | |
| NM_152133.3:c.*484T>C (TAGAP) | NP_687034.1:n.*484T>C |