Revel Score:
ENST00000281274
0.155
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01252855 (EAS)
Genomes Max Group AF
0.0114112 (SAS)
Exomes Max Group AF
0.01282702 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.114128842G>A , CM000665.2:g.114128842G>A | GRCh38 |
| NC_000003.11:g.113847689G>A , CM000665.1:g.113847689G>A | GRCh37 |
| NC_000003.10:g.115330379G>A | NCBI36 |
| NG_008842.2:g.75566C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698213.1:c.*381C>T | ENSP00000513607.1:n.*381C>T | |
| ENST00000383673.5:c.1077C>T MANE Select | ENSP00000373169.2:p.His359= | |
| ENST00000295881.9:c.978C>T | ENSP00000295881.6:p.His326= | |
| ENST00000383673.4:c.1077C>T | ENSP00000373169.2:p.His359= | |
| ENST00000460779.5:c.1077C>T | ENSP00000419402.1:p.His359= | |
| ENST00000467632.5:c.1077C>T | ENSP00000420662.1:p.His359= | |
| NM_000796.5:c.1077C>T | NP_000787.2:p.His359= | |
| NM_001282563.2:c.1077C>T | NP_001269492.1:p.His359= | |
| NM_001290809.1:c.1077C>T | NP_001277738.1:p.His359= | |
| NM_033663.5:c.978C>T | NP_387512.3:p.His326= | |
| XM_011512510.1:c.1077C>T | XP_011510812.1:p.His359= | |
| XM_011512511.1:c.1077C>T | XP_011510813.1:p.His359= | |
| XM_011512512.1:c.1077C>T | XP_011510814.1:p.His359= | |
| XM_017005829.1:c.1077C>T | XP_016861318.1:p.His359= | |
| NM_000796.6:c.1077C>T MANE Select | NP_000787.2:p.His359= | |
| NM_033663.6:c.978C>T | NP_387512.3:p.His326= |