Revel Score:
ENST00000291532
0.767
ENST00000433957
0.767
ENST00000398405
0.767
ENST00000380399
0.767
ENST00000398397
0.767
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006048 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00006146 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42388524G>A , CM000683.2:g.42388524G>A | GRCh38 |
| NC_000021.8:g.43808633G>A , CM000683.1:g.43808633G>A | GRCh37 |
| NC_000021.7:g.42681702G>A | NCBI36 |
| NG_011629.1:g.12568C>T | |
| NG_011629.2:g.12568C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.325C>T | ENSP00000411013.3:p.Arg109Trp | |
| ENST00000644384.2:c.325C>T MANE Select | ENSP00000494414.1:p.Arg109Trp | |
| ENST00000652415.1:c.325C>T | ENSP00000498756.1:p.Arg109Trp | |
| ENST00000291532.7:c.325C>T | ENSP00000291532.3:p.Arg109Trp | |
| ENST00000398397.3:c.325C>T | ENSP00000381434.3:p.Arg109Trp | |
| ENST00000398405.5:c.319C>T | ENSP00000381442.1:p.Arg107Trp | |
| ENST00000433957.6:c.325C>T | ENSP00000411013.2:p.Arg109Trp | |
| ENST00000474596.5:n.193C>T | ||
| ENST00000482761.1:n.612C>T | ||
| NM_001256317.1:c.325C>T | NP_001243246.1:p.Arg109Trp | |
| NM_024022.2:c.325C>T | NP_076927.1:p.Arg109Trp | |
| NM_032404.2:c.-57C>T | NP_115780.1:n.-57C>T | |
| NM_032405.1:c.325C>T | NP_115781.1:p.Arg109Trp | |
| NR_046020.1:n.1281C>T | ||
| NM_001256317.2:c.325C>T | NP_001243246.1:p.Arg109Trp | |
| NM_024022.3:c.325C>T | NP_076927.1:p.Arg109Trp | |
| NM_032405.2:c.325C>T | NP_115781.1:p.Arg109Trp | |
| NM_001256317.3:c.325C>T MANE Select | NP_001243246.1:p.Arg109Trp | |
| NM_024022.4:c.325C>T | NP_076927.1:p.Arg109Trp | |
| NM_032404.3:c.-57C>T | NP_115780.1:n.-57C>T |