Revel Score:
ENST00000438926
0.815
ENST00000262502
0.815
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001039 (EAS)
Exomes Max Group AF
0.00009928 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56894594G>A , CM000678.2:g.56894594G>A | GRCh38 |
| NC_000016.9:g.56928506G>A , CM000678.1:g.56928506G>A | GRCh37 |
| NC_000016.8:g.55486007G>A | NCBI36 |
| NG_009386.1:g.34388G>A | |
| NG_009386.2:g.34388G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2585G>A MANE Select | ENSP00000456149.2:p.Arg862His | |
| ENST00000262502.5:c.2582G>A | ENSP00000262502.5:p.Arg861His | |
| ENST00000438926.6:c.2612G>A | ENSP00000402152.2:p.Arg871His | |
| ENST00000563236.5:c.2585G>A | ENSP00000456149.1:p.Arg862His | |
| ENST00000566786.5:c.2609G>A | ENSP00000457552.1:p.Arg870His | |
| NM_000339.2:c.2612G>A | NP_000330.2:p.Arg871His | |
| NM_001126107.1:c.2609G>A | NP_001119579.1:p.Arg870His | |
| NM_001126108.1:c.2585G>A | NP_001119580.1:p.Arg862His | |
| XM_005256119.1:c.2582G>A | XP_005256176.1:p.Arg861His | |
| XM_005256119.2:c.2582G>A | XP_005256176.1:p.Arg861His | |
| NM_000339.3:c.2612G>A | NP_000330.3:p.Arg871His | |
| NM_001126107.2:c.2609G>A | NP_001119579.2:p.Arg870His | |
| NM_001126108.2:c.2585G>A MANE Select | NP_001119580.2:p.Arg862His |