Revel Score:
ENST00000407479
0.736
ENST00000246949 (MANE Select)
0.736
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0130028 (AFR)
Genomes Max Group AF
0.01201646 (AFR)
Exomes Max Group AF
0.01359349 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3656184A>G , CM000678.2:g.3656184A>G | GRCh38 |
| NC_000016.9:g.3706185A>G , CM000678.1:g.3706185A>G | GRCh37 |
| NC_000016.8:g.3646186A>G | NCBI36 |
| NG_009285.1:g.8246A>G | |
| NG_033088.1:g.66414T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246949.10:c.319A>G (DNASE1) MANE Select | ENSP00000246949.5:p.Arg107Gly | |
| ENST00000246949.9:c.319A>G (DNASE1) | ENSP00000246949.5:p.Arg107Gly | |
| ENST00000407479.5:c.319A>G (DNASE1) | ENSP00000385905.1:p.Arg107Gly | |
| ENST00000570376.5:c.*47A>G (DNASE1) | ENSP00000461725.1:n.*47A>G | |
| ENST00000570769.5:c.*87A>G (DNASE1) | ENSP00000458467.1:n.*87A>G | |
| ENST00000570807.5:c.66A>G (DNASE1) | ||
| ENST00000571460.5:c.*47A>G (DNASE1) | ENSP00000459850.1:n.*47A>G | |
| ENST00000572237.1:c.21A>G (DNASE1) | ||
| ENST00000573804.5:n.115A>G (DNASE1) | ||
| ENST00000575707.5:c.255+1869T>C (TRAP1) | ||
| ENST00000576050.5:c.*47A>G (DNASE1) | ENSP00000461745.1:n.*47A>G | |
| NM_005223.3:c.319A>G (DNASE1) | NP_005214.2:p.Arg107Gly | |
| XM_005255148.2:c.319A>G (DNASE1) | XP_005255205.1:p.Arg107Gly | |
| XM_005255149.2:c.112A>G (DNASE1) | XP_005255206.1:p.Arg38Gly | |
| XM_006720854.2:c.112A>G (DNASE1) | XP_006720917.1:p.Arg38Gly | |
| XM_011522393.1:c.319A>G (DNASE1) | XP_011520695.1:p.Arg107Gly | |
| XM_011522394.1:c.319A>G (DNASE1) | XP_011520696.1:p.Arg107Gly | |
| XM_011522395.1:c.357A>G (DNASE1) | XP_011520697.1:p.Thr119= | |
| XM_011522396.1:c.319A>G (DNASE1) | XP_011520698.1:p.Arg107Gly | |
| XM_011522397.1:c.81A>G (DNASE1) | XP_011520699.1:p.Thr27= | |
| XM_011522398.1:c.81A>G (DNASE1) | XP_011520700.1:p.Thr27= | |
| XR_243264.1:n.1245A>G (DNASE1) | ||
| XR_932790.1:n.1245A>G (DNASE1) | ||
| XR_933026.1:n.151+1259T>C | ||
| NM_001351825.1:c.319A>G (DNASE1) | NP_001338754.1:p.Arg107Gly | |
| XM_006720854.3:c.112A>G (DNASE1) | XP_006720917.1:p.Arg38Gly | |
| XM_011522393.2:c.319A>G (DNASE1) | XP_011520695.1:p.Arg107Gly | |
| XM_017022992.1:c.319A>G (DNASE1) | XP_016878481.1:p.Arg107Gly | |
| XM_017022993.1:c.319A>G (DNASE1) | XP_016878482.1:p.Arg107Gly | |
| XM_017023000.2:c.357A>G (DNASE1) | XP_016878489.1:p.Thr119= | |
| XM_017023001.1:c.112A>G (DNASE1) | XP_016878490.1:p.Arg38Gly | |
| XM_017023002.2:c.112A>G (DNASE1) | XP_016878491.1:p.Arg38Gly | |
| XM_017023003.2:c.81A>G (DNASE1) | XP_016878492.1:p.Thr27= | |
| XM_017023004.1:c.81A>G (DNASE1) | XP_016878493.1:p.Thr27= | |
| XM_017023005.1:c.81A>G (DNASE1) | XP_016878494.1:p.Thr27= | |
| XM_017023006.1:c.81A>G (DNASE1) | XP_016878495.1:p.Thr27= | |
| XM_024450169.1:c.319A>G (DNASE1) | XP_024305937.1:p.Arg107Gly | |
| XM_024450170.1:c.319A>G (DNASE1) | XP_024305938.1:p.Arg107Gly | |
| XM_024450171.1:c.112A>G (DNASE1) | XP_024305939.1:p.Arg38Gly | |
| XM_024450172.1:c.319A>G (DNASE1) | XP_024305940.1:p.Arg107Gly | |
| XR_002957783.1:n.1535A>G (DNASE1) | ||
| XR_002957784.1:n.1535A>G (DNASE1) | ||
| XR_002957785.1:n.1535A>G (DNASE1) | ||
| NM_001351825.2:c.319A>G (DNASE1) | NP_001338754.1:p.Arg107Gly | |
| NM_001387135.1:c.319A>G (DNASE1) | NP_001374064.1:p.Arg107Gly | |
| NM_001387139.1:c.319A>G (DNASE1) | NP_001374068.1:p.Arg107Gly | |
| NM_001387140.1:c.319A>G (DNASE1) | NP_001374069.1:p.Arg107Gly | |
| NM_001387141.1:c.112A>G (DNASE1) | NP_001374070.1:p.Arg38Gly | |
| NM_005223.4:c.319A>G (DNASE1) MANE Select | NP_005214.2:p.Arg107Gly | |
| NR_170561.1:n.674A>G (DNASE1) | ||
| NR_170562.1:n.674A>G (DNASE1) |