Revel Score:
ENST00000520113 (MANE Select)
0.820
ENST00000369538
0.820
ENST00000353928
0.820
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00603025 (AFR)
Genomes Max Group AF
0.00604987 (AFR)
Exomes Max Group AF
0.00557729 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677972G>A , CM000663.2:g.114677972G>A | GRCh38 |
| NC_000001.10:g.115220593G>A , CM000663.1:g.115220593G>A | GRCh37 |
| NC_000001.9:g.115022116G>A | NCBI36 |
| NG_008012.1:g.22584C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1150C>T | ENSP00000358551.4:p.Arg384Trp | |
| ENST00000520113.7:c.1162C>T MANE Select | ENSP00000430075.3:p.Arg388Trp | |
| ENST00000637080.1:c.945C>T | ENSP00000489753.1:n.945C>T | |
| ENST00000639077.1:n.827C>T | ||
| ENST00000369538.3:c.1249C>T | ENSP00000358551.3:p.Arg417Trp | |
| ENST00000520113.6:c.1261C>T | ENSP00000430075.2:p.Arg421Trp | |
| NM_000036.2:c.1261C>T | NP_000027.2:p.Arg421Trp | |
| NM_001172626.1:c.1249C>T | NP_001166097.1:p.Arg417Trp | |
| NM_000036.3:c.1162C>T MANE Select | NP_000027.3:p.Arg388Trp | |
| NM_001172626.2:c.1150C>T | NP_001166097.2:p.Arg384Trp |