gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80052244 (NFE)
Genomes Max Group AF
0.80050204 (NFE)
Exomes Max Group AF
0.514083 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.39665796A>G , CM000683.2:g.39665796A>G | GRCh38 |
| NC_000021.8:g.41037723A>G , CM000683.1:g.41037723A>G | GRCh37 |
| NC_000021.7:g.39959593A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682818.1:n.607+2180A>G (B3GALT5) | ||
| ENST00000684187.2:c.*4304A>G (B3GALT5) MANE Select | ENSP00000506797.1:n.*4304A>G | |
| ENST00000380620.8:c.*4304A>G (B3GALT5) | ENSP00000369994.3:n.*4304A>G | |
| XM_011529472.2:c.-1107+33286A>G (IGSF5) | XP_011527774.1:n.-1107+33286A>G | |
| NM_001356336.2:c.*4304A>G (B3GALT5) MANE Select | NP_001343265.1:n.*4304A>G | |
| NM_001356338.2:c.*4304A>G (B3GALT5) | NP_001343267.1:n.*4304A>G | |
| NM_001356339.2:c.*4304A>G (B3GALT5) | NP_001343268.1:n.*4304A>G | |
| NM_006057.3:c.*4304A>G (B3GALT5) | NP_006048.1:n.*4304A>G | |
| NM_033170.3:c.*4304A>G (B3GALT5) | NP_149360.1:n.*4304A>G | |
| NM_033171.3:c.*4304A>G (B3GALT5) | NP_149361.1:n.*4304A>G | |
| NM_033172.3:c.*4304A>G (B3GALT5) | NP_149362.2:n.*4304A>G | |
| NM_001278650.2:c.*4304A>G (B3GALT5) | NP_001265579.1:n.*4304A>G |