Revel Score:
ENST00000291532
0.884
ENST00000433957
0.884
ENST00000398405
0.884
ENST00000380399
0.884
ENST00000398397
0.884
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00267686 (EAS)
Genomes Max Group AF
0.00104453 (EAS)
Exomes Max Group AF
0.00279319 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42388971C>T , CM000683.2:g.42388971C>T | GRCh38 |
| NC_000021.8:g.43809080C>T , CM000683.1:g.43809080C>T | GRCh37 |
| NC_000021.7:g.42682149C>T | NCBI36 |
| NG_011629.1:g.12121G>A | |
| NG_011629.2:g.12121G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.280G>A | ENSP00000411013.3:p.Gly94Arg | |
| ENST00000644384.2:c.280G>A MANE Select | ENSP00000494414.1:p.Gly94Arg | |
| ENST00000652415.1:c.280G>A | ENSP00000498756.1:p.Gly94Arg | |
| ENST00000291532.7:c.280G>A | ENSP00000291532.3:p.Gly94Arg | |
| ENST00000398397.3:c.280G>A | ENSP00000381434.3:p.Gly94Arg | |
| ENST00000398405.5:c.274G>A | ENSP00000381442.1:p.Gly92Arg | |
| ENST00000433957.6:c.280G>A | ENSP00000411013.2:p.Gly94Arg | |
| ENST00000474596.5:n.148G>A | ||
| ENST00000482761.1:n.567G>A | ||
| NM_001256317.1:c.280G>A | NP_001243246.1:p.Gly94Arg | |
| NM_024022.2:c.280G>A | NP_076927.1:p.Gly94Arg | |
| NM_032404.2:c.-102G>A | NP_115780.1:n.-102G>A | |
| NM_032405.1:c.280G>A | NP_115781.1:p.Gly94Arg | |
| NR_046020.1:n.1236G>A | ||
| NM_001256317.2:c.280G>A | NP_001243246.1:p.Gly94Arg | |
| NM_024022.3:c.280G>A | NP_076927.1:p.Gly94Arg | |
| NM_032405.2:c.280G>A | NP_115781.1:p.Gly94Arg | |
| NM_001256317.3:c.280G>A MANE Select | NP_001243246.1:p.Gly94Arg | |
| NM_024022.4:c.280G>A | NP_076927.1:p.Gly94Arg | |
| NM_032404.3:c.-102G>A | NP_115780.1:n.-102G>A |