Revel Score:
ENST00000284382
0.834
ENST00000394113
0.834
ENST00000538112
0.834
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100472976C>T , CM000677.2:g.100472976C>T | GRCh38 |
| NC_000015.9:g.101013181C>T , CM000677.1:g.101013181C>T | GRCh37 |
| NC_000015.8:g.98830704C>T | NCBI36 |
| NG_042826.1:g.76745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679737.1:c.686G>A MANE Select | ENSP00000506641.1:p.Arg229His | |
| ENST00000284382.8:c.686G>A | ENSP00000284382.4:p.Arg229His | |
| ENST00000394113.5:c.686G>A | ENSP00000377672.3:p.Arg229His | |
| ENST00000538112.6:c.686G>A | ENSP00000437640.2:p.Arg229His | |
| ENST00000560944.1:n.94-70111G>A | ||
| NM_001290341.1:c.719G>A | NP_001277270.1:p.Arg240His | |
| NM_001290341.2:c.719G>A | NP_001277270.1:p.Arg240His | |
| NM_001290342.1:c.686G>A | NP_001277271.1:p.Arg229His | |
| NM_001290342.2:c.686G>A | NP_001277271.1:p.Arg229His | |
| NM_001290343.1:c.686G>A | NP_001277272.1:p.Arg229His | |
| NM_178842.3:c.686G>A | NP_849164.2:p.Arg229His | |
| NM_178842.4:c.686G>A | NP_849164.2:p.Arg229His | |
| XM_011521355.1:c.719G>A | XP_011519657.1:p.Arg240His | |
| XM_011521356.1:c.719G>A | XP_011519658.1:p.Arg240His | |
| XM_011521357.1:c.719G>A | XP_011519659.1:p.Arg240His | |
| XM_011521358.1:c.719G>A | XP_011519660.1:p.Arg240His | |
| XM_011521355.2:c.719G>A | XP_011519657.1:p.Arg240His | |
| XM_011521357.2:c.719G>A | XP_011519659.1:p.Arg240His | |
| XM_017022002.1:c.719G>A | XP_016877491.1:p.Arg240His | |
| XM_017022003.1:c.686G>A | XP_016877492.1:p.Arg229His | |
| XM_017022004.1:c.686G>A | XP_016877493.1:p.Arg229His | |
| NM_001290343.2:c.686G>A | NP_001277272.1:p.Arg229His | |
| NM_178842.5:c.686G>A | NP_849164.2:p.Arg229His | |
| NM_001378789.1:c.686G>A MANE Select | NP_001365718.1:p.Arg229His |