Revel Score:
ENST00000306077 (MANE Select)
0.592
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01392907 (NFE)
Genomes Max Group AF
0.01228336 (NFE)
Exomes Max Group AF
0.01399111 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14139231C>T , CM000665.2:g.14139231C>T | GRCh38 |
| NC_000003.11:g.14180731C>T , CM000665.1:g.14180731C>T | GRCh37 |
| NC_000003.10:g.14155732C>T | NCBI36 |
| NG_008975.1:g.19292C>T , LRG_435:g.19292C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*964C>T | ENSP00000395617.1:n.*964C>T | |
| ENST00000306077.5:c.934C>T MANE Select | ENSP00000303992.5:p.Arg312Trp | |
| ENST00000306077.4:c.934C>T | ENSP00000303992.4:p.Arg312Trp | |
| ENST00000601399.3:n.261C>T | ||
| ENST00000608606.1:c.170C>T | ||
| NM_024334.2:c.934C>T , LRG_435t1:c.934C>T | NP_077310.1:p.Arg312Trp | |
| XM_011534109.1:c.829C>T | XP_011532411.1:p.Arg277Trp | |
| XM_017007176.2:c.829C>T | XP_016862665.1:p.Arg277Trp | |
| NM_024334.3:c.934C>T MANE Select | NP_077310.1:p.Arg312Trp |