Revel Score:
ENST00000302118 (MANE Select)
0.456
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00021808 (SAS)
Genomes Max Group AF
0.00017125 (SAS)
Exomes Max Group AF
0.0002017 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55058630C>T , CM000663.2:g.55058630C>T | GRCh38 |
| NC_000001.10:g.55524303C>T , CM000663.1:g.55524303C>T | GRCh37 |
| NC_000001.9:g.55296891C>T | NCBI36 |
| NG_009061.1:g.24084C>T , LRG_275:g.24084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1486C>T | ENSP00000501161.2:p.Arg496Trp | |
| ENST00000710286.1:c.1843C>T | ENSP00000518176.1:p.Arg615Trp | |
| ENST00000673903.1:c.1111C>T | ENSP00000501257.1:p.Arg371Trp | |
| ENST00000673913.1:c.226C>T | ENSP00000501161.1:p.Arg76Trp | |
| ENST00000302118.5:c.1486C>T MANE Select | ENSP00000303208.5:p.Arg496Trp | |
| ENST00000490692.1:n.2210C>T | ||
| NM_174936.3:c.1486C>T , LRG_275t1:c.1486C>T | NP_777596.2:p.Arg496Trp | |
| NR_110451.1:n.1093C>T | ||
| XM_011541193.1:c.607C>T | XP_011539495.1:p.Arg203Trp | |
| NM_174936.4:c.1486C>T MANE Select | NP_777596.2:p.Arg496Trp | |
| NR_110451.2:n.1093C>T |