Revel Score:
ENST00000278550 (MANE Select)
0.694
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00311459 (SAS)
Genomes Max Group AF
0.00224893 (SAS)
Exomes Max Group AF
0.00310078 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78726217C>T , CM000673.2:g.78726217C>T | GRCh38 |
| NC_000011.9:g.78437262C>T , CM000673.1:g.78437262C>T | GRCh37 |
| NC_000011.8:g.78114910C>T | NCBI36 |
| NG_051803.1:g.719435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278550.12:c.3412G>A MANE Select | ENSP00000278550.7:p.Val1138Met | |
| ENST00000278550.11:c.3412G>A | ENSP00000278550.7:p.Val1138Met | |
| ENST00000612046.4:c.3412G>A | ENSP00000483150.1:p.Val1138Met | |
| NM_001098816.2:c.3412G>A | NP_001092286.2:p.Val1138Met | |
| XM_011544924.1:c.3460G>A | XP_011543226.1:p.Val1154Met | |
| XM_011544925.1:c.3460G>A | XP_011543227.1:p.Val1154Met | |
| XM_011544927.1:c.3460G>A | XP_011543229.1:p.Val1154Met | |
| XM_011544928.1:c.3385G>A | XP_011543230.1:p.Val1129Met | |
| XM_011544929.1:c.3361G>A | XP_011543231.1:p.Val1121Met | |
| XM_011544930.1:c.3256G>A | XP_011543232.1:p.Val1086Met | |
| XM_011544931.1:c.2299G>A | XP_011543233.1:p.Val767Met | |
| XM_011544932.1:c.913G>A | XP_011543234.1:p.Val305Met | |
| XM_011544933.1:c.856G>A | XP_011543235.1:p.Val286Met | |
| XM_011544933.3:c.856G>A | XP_011543235.1:p.Val286Met | |
| XM_017017525.1:c.3487G>A | XP_016873014.1:p.Val1163Met | |
| XM_017017526.1:c.3412G>A | XP_016873015.1:p.Val1138Met | |
| NM_001098816.3:c.3412G>A MANE Select | NP_001092286.2:p.Val1138Met |