Revel Score:
ENST00000302118 (MANE Select)
0.242
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00820765 (AFR)
Genomes Max Group AF
0.00808555 (AFR)
Exomes Max Group AF
0.00785775 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55058549C>T , CM000663.2:g.55058549C>T | GRCh38 |
| NC_000001.10:g.55524222C>T , CM000663.1:g.55524222C>T | GRCh37 |
| NC_000001.9:g.55296810C>T | NCBI36 |
| NG_009061.1:g.24003C>T , LRG_275:g.24003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1405C>T | ENSP00000501161.2:p.Arg469Trp | |
| ENST00000710286.1:c.1762C>T | ENSP00000518176.1:p.Arg588Trp | |
| ENST00000673903.1:c.1030C>T | ENSP00000501257.1:p.Arg344Trp | |
| ENST00000673913.1:c.145C>T | ENSP00000501161.1:p.Arg49Trp | |
| ENST00000302118.5:c.1405C>T MANE Select | ENSP00000303208.5:p.Arg469Trp | |
| ENST00000490692.1:n.2129C>T | ||
| NM_174936.3:c.1405C>T , LRG_275t1:c.1405C>T | NP_777596.2:p.Arg469Trp | |
| NR_110451.1:n.1012C>T | ||
| XM_011541193.1:c.526C>T | XP_011539495.1:p.Arg176Trp | |
| NM_174936.4:c.1405C>T MANE Select | NP_777596.2:p.Arg469Trp | |
| NR_110451.2:n.1012C>T |