Revel Score:
ENST00000216194
0.839
ENST00000454266
0.839
ENST00000537028
0.839
ENST00000342312
0.839
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40361551G>A , CM000684.2:g.40361551G>A | GRCh38 |
| NC_000022.10:g.40757555G>A , CM000684.1:g.40757555G>A | GRCh37 |
| NC_000022.9:g.39087501G>A | NCBI36 |
| NG_007993.1:g.20052G>A | |
| NG_007993.2:g.20052G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*289G>A | ENSP00000485462.2:n.*289G>A | |
| ENST00000623287.4:c.*351G>A | ENSP00000485437.1:n.*351G>A | |
| ENST00000623632.4:c.792+1059G>A | ENSP00000485288.2:n.792+1059G>A | |
| ENST00000625194.4:c.926G>A | ENSP00000485289.2:p.Arg309His | |
| ENST00000636265.1:c.926G>A | ENSP00000490909.1:p.Arg309His | |
| ENST00000636433.1:n.948G>A | ||
| ENST00000636714.1:c.926G>A | ENSP00000490946.1:p.Arg309His | |
| ENST00000637666.2:c.926G>A | ENSP00000489696.2:p.Arg309His | |
| ENST00000637669.1:c.926G>A | ENSP00000489728.1:p.Arg309His | |
| ENST00000639722.1:c.*622G>A | ENSP00000492828.1:n.*622G>A | |
| ENST00000674592.1:n.1095G>A | ||
| ENST00000675622.1:n.3993G>A | ||
| ENST00000679609.1:c.*536G>A | ENSP00000506592.1:n.*536G>A | |
| ENST00000679656.1:n.1611G>A | ||
| ENST00000679723.1:c.881G>A | ENSP00000505155.1:p.Arg294His | |
| ENST00000679845.1:n.1234G>A | ||
| ENST00000679904.1:n.1322G>A | ||
| ENST00000680378.1:c.1013G>A | ENSP00000505556.1:p.Arg338His | |
| ENST00000680444.1:c.*289G>A | ENSP00000505298.1:n.*289G>A | |
| ENST00000680978.1:c.926G>A | ENSP00000505244.1:p.Arg309His | |
| ENST00000681003.1:n.358G>A | ||
| ENST00000681159.1:n.985G>A | ||
| ENST00000216194.11:c.968G>A | ENSP00000216194.8:p.Arg323His | |
| ENST00000342312.9:c.926G>A | ENSP00000341429.6:p.Arg309His | |
| ENST00000480775.2:c.525G>A | ||
| ENST00000623063.3:c.926G>A MANE Select | ENSP00000485525.1:p.Arg309His | |
| ENST00000623287.3:c.*351G>A | ENSP00000485437.1:n.*351G>A | |
| ENST00000623978.3:c.386G>A | ENSP00000485477.1:p.Arg129His | |
| ENST00000625194.3:c.513G>A | ||
| NM_000026.2:c.926G>A | NP_000017.1:p.Arg309His | |
| NM_001123378.1:c.926G>A | NP_001116850.1:p.Arg309His | |
| XM_011529976.1:c.926G>A | XP_011528278.1:p.Arg309His | |
| XM_011529977.1:c.926G>A | XP_011528279.1:p.Arg309His | |
| XM_011529978.1:c.926G>A | XP_011528280.1:p.Arg309His | |
| XM_011529979.1:c.926G>A | XP_011528281.1:p.Arg309His | |
| XM_011529980.1:c.926G>A | XP_011528282.1:p.Arg309His | |
| XM_011529981.1:c.461G>A | XP_011528283.1:p.Arg154His | |
| XM_011529982.1:c.95G>A | XP_011528284.1:p.Arg32His | |
| XR_937824.1:n.985G>A | ||
| XR_937825.1:n.985G>A | ||
| XR_937826.1:n.1170G>A | ||
| NM_000026.3:c.926G>A | NP_000017.1:p.Arg309His | |
| NM_001123378.2:c.926G>A | NP_001116850.1:p.Arg309His | |
| NM_001317923.1:c.734G>A | NP_001304852.1:p.Arg245His | |
| NM_001363840.1:c.926G>A | NP_001350769.1:p.Arg309His | |
| NR_134256.1:n.985G>A | ||
| XM_011529977.3:c.926G>A | XP_011528279.1:p.Arg309His | |
| XM_011529980.3:c.926G>A | XP_011528282.1:p.Arg309His | |
| XM_017028636.1:c.881G>A | XP_016884125.1:p.Arg294His | |
| XM_017028637.1:c.881G>A | XP_016884126.1:p.Arg294His | |
| XM_017028638.1:c.461G>A | XP_016884127.1:p.Arg154His | |
| XM_017028639.2:c.461G>A | XP_016884128.1:p.Arg154His | |
| XM_017028640.1:c.95G>A | XP_016884129.1:p.Arg32His | |
| XM_024452166.1:c.881G>A | XP_024307934.1:p.Arg294His | |
| XR_001755176.2:n.1168G>A | ||
| XR_002958670.1:n.922G>A | ||
| XR_002958671.1:n.1168G>A | ||
| XR_937825.3:n.983G>A | ||
| NM_000026.4:c.926G>A MANE Select | NP_000017.1:p.Arg309His | |
| NM_001363840.2:c.926G>A | NP_001350769.1:p.Arg309His | |
| NM_001123378.3:c.926G>A | NP_001116850.1:p.Arg309His | |
| NM_001317923.2:c.734G>A | NP_001304852.1:p.Arg245His | |
| NM_001363840.3:c.926G>A | NP_001350769.1:p.Arg309His | |
| NR_134256.2:n.985G>A |