gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09940825 (NFE)
Genomes Max Group AF
0.10114657 (NFE)
Exomes Max Group AF
0.09918342 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10092495A>G , CM000681.2:g.10092495A>G | GRCh38 |
| NC_000019.9:g.10203171A>G , CM000681.1:g.10203171A>G | GRCh37 |
| NC_000019.8:g.10064171A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253109.5:c.*94T>C (ANGPTL6) MANE Select | ENSP00000253109.3:n.*94T>C | |
| ENST00000253110.16:c.*193A>G (SHFL) MANE Select | ENSP00000253110.10:n.*193A>G | |
| ENST00000253109.4:c.*94T>C (ANGPTL6) | ENSP00000253109.3:n.*94T>C | |
| ENST00000253110.15:c.*193A>G (SHFL) | ENSP00000253110.10:n.*193A>G | |
| ENST00000397881.7:c.*193A>G (SHFL) | ENSP00000380978.3:n.*193A>G | |
| ENST00000585919.5:n.1322A>G (SHFL) | ||
| ENST00000586730.1:n.906A>G (SHFL) | ||
| ENST00000589181.5:c.*94T>C (ANGPTL6) | ENSP00000465597.1:n.*94T>C | |
| ENST00000591813.5:c.*193A>G (SHFL) | ENSP00000467182.1:n.*193A>G | |
| ENST00000592641.5:c.*94T>C (ANGPTL6) | ENSP00000467930.1:n.*94T>C | |
| NM_001308277.1:c.*193A>G (SHFL) | NP_001295206.1:n.*193A>G | |
| NM_018381.2:c.*193A>G (SHFL) | NP_060851.2:n.*193A>G | |
| NM_018381.3:c.*193A>G (SHFL) | NP_060851.2:n.*193A>G | |
| NM_031917.2:c.*94T>C (ANGPTL6) | NP_114123.2:n.*94T>C | |
| XM_005260091.2:c.*94T>C (ANGPTL6) | XP_005260148.1:n.*94T>C | |
| XM_011528121.1:c.*193A>G (SHFL) | XP_011526423.1:n.*193A>G | |
| XM_011528347.1:c.*94T>C (ANGPTL6) | XP_011526649.1:n.*94T>C | |
| XM_011528348.1:c.*94T>C (ANGPTL6) | XP_011526650.1:n.*94T>C | |
| XM_011528349.1:c.*94T>C (ANGPTL6) | XP_011526651.1:n.*94T>C | |
| XM_011528350.1:c.*94T>C (ANGPTL6) | XP_011526652.1:n.*94T>C | |
| NM_001321411.1:c.*94T>C (ANGPTL6) | NP_001308340.1:n.*94T>C | |
| XM_005260091.4:c.*94T>C (ANGPTL6) | XP_005260148.1:n.*94T>C | |
| XM_011528347.3:c.*94T>C (ANGPTL6) | XP_011526649.1:n.*94T>C | |
| XM_011528348.3:c.*94T>C (ANGPTL6) | XP_011526650.1:n.*94T>C | |
| XM_011528349.3:c.*94T>C (ANGPTL6) | XP_011526651.1:n.*94T>C | |
| XM_011528350.3:c.*94T>C (ANGPTL6) | XP_011526652.1:n.*94T>C | |
| XM_017027347.2:c.*94T>C (ANGPTL6) | XP_016882836.1:n.*94T>C | |
| XR_002958369.1:n.2014T>C (ANGPTL6) | ||
| NM_018381.4:c.*193A>G (SHFL) MANE Select | NP_060851.2:n.*193A>G | |
| NM_001308277.2:c.*193A>G (SHFL) | NP_001295206.1:n.*193A>G | |
| NM_001321411.2:c.*94T>C (ANGPTL6) | NP_001308340.1:n.*94T>C | |
| NM_001387347.1:c.*94T>C (ANGPTL6) | NP_001374276.1:n.*94T>C | |
| NM_001387348.1:c.*94T>C (ANGPTL6) | NP_001374277.1:n.*94T>C | |
| NM_031917.3:c.*94T>C (ANGPTL6) MANE Select | NP_114123.2:n.*94T>C |