gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31977426 (AFR)
Genomes Max Group AF
0.31977426 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.86311359A>C , CM000677.2:g.86311359A>C | GRCh38 |
| NC_000015.9:g.86854590A>C , CM000677.1:g.86854590A>C | GRCh37 |
| NC_000015.8:g.84655594A>C | NCBI36 |
| NG_033836.1:g.174349A>C | |
| NG_033836.2:g.236552A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441037.7:c.2374+15951A>C (AGBL1) | ENSP00000413001.3:n.2374+15951A>C | |
| ENST00000614907.3:c.2374+15951A>C (AGBL1) MANE Select | ENSP00000490608.2:n.2374+15951A>C | |
| ENST00000421325.3:c.2236+15951A>C | ENSP00000397173.3:n.2236+15951A>C | |
| ENST00000441037.6:c.2236+15951A>C | ENSP00000413001.2:n.2236+15951A>C | |
| NM_152336.2:c.2236+15951A>C (AGBL1) | NP_689549.2:n.2236+15951A>C | |
| NR_046012.1:n.490+773T>G (AGBL1-AS1) | ||
| XM_011521226.1:c.2374+15951A>C (AGBL1) | XP_011519528.1:n.2374+15951A>C | |
| XM_011521227.1:c.2374+15951A>C (AGBL1) | XP_011519529.1:n.2374+15951A>C | |
| XR_931750.1:n.2415+15951A>C (AGBL1) | ||
| NM_152336.3:c.2374+15951A>C (AGBL1) | NP_689549.3:n.2374+15951A>C | |
| XM_011521226.3:c.2374+15951A>C (AGBL1) | XP_011519528.1:n.2374+15951A>C | |
| XM_011521227.3:c.2374+15951A>C (AGBL1) | XP_011519529.1:n.2374+15951A>C | |
| XM_017021918.2:c.2341+15951A>C (AGBL1) | XP_016877407.1:n.2341+15951A>C | |
| XM_017021919.2:c.2290+15951A>C (AGBL1) | XP_016877408.1:n.2290+15951A>C | |
| XM_017021920.2:c.2374+15951A>C (AGBL1) | XP_016877409.1:n.2374+15951A>C | |
| XR_931750.3:n.2563+15951A>C (AGBL1) | ||
| NM_152336.4:c.2374+15951A>C (AGBL1) | NP_689549.3:n.2374+15951A>C | |
| NM_001386094.1:c.2374+15951A>C (AGBL1) MANE Select | NP_001373023.1:n.2374+15951A>C |