Revel Score:
ENST00000330883
0.676
ENST00000392968
0.676
ENST00000262186 (MANE Select)
0.676
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00039049 (AMR)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00051043 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947383G>A , CM000669.2:g.150947383G>A | GRCh38 |
| NC_000007.13:g.150644471G>A , CM000669.1:g.150644471G>A | GRCh37 |
| NC_000007.12:g.150275404G>A | NCBI36 |
| NG_008916.1:g.35544C>T , LRG_288:g.35544C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3930C>T | ||
| ENST00000262186.10:c.3097C>T MANE Select | ENSP00000262186.5:p.Arg1033Trp | |
| ENST00000330883.9:c.2077C>T | ENSP00000328531.4:p.Arg693Trp | |
| ENST00000262186.9:c.3097C>T | ENSP00000262186.5:p.Arg1033Trp | |
| ENST00000330883.8:c.2077C>T | ENSP00000328531.4:p.Arg693Trp | |
| NM_000238.3:c.3097C>T , LRG_288t1:c.3097C>T | NP_000229.1:p.Arg1033Trp | |
| NM_172057.2:c.2077C>T , LRG_288t3:c.2077C>T | NP_742054.1:p.Arg693Trp | |
| XM_011516185.1:c.2797C>T | XP_011514487.1:p.Arg933Trp | |
| XM_011516185.2:c.2797C>T | XP_011514487.1:p.Arg933Trp | |
| XM_017012195.1:c.2947C>T | XP_016867684.1:p.Arg983Trp | |
| XM_017012196.1:c.2920C>T | XP_016867685.1:p.Arg974Trp | |
| NM_000238.4:c.3097C>T MANE Select | NP_000229.1:p.Arg1033Trp | |
| NM_172057.3:c.2077C>T | NP_742054.1:p.Arg693Trp |