Revel Score:
ENST00000155840 (MANE Select)
0.770
ENST00000335475
0.770
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000393 (SAS)
Exomes Max Group AF
0.00000416 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2775966C>T , CM000673.2:g.2775966C>T | GRCh38 |
| NC_000011.9:g.2797196C>T , CM000673.1:g.2797196C>T | GRCh37 |
| NC_000011.8:g.2753772C>T | NCBI36 |
| NG_008935.1:g.335976C>T , LRG_287:g.335976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1240C>T | ENSP00000434560.2:p.Arg414Trp | |
| ENST00000646564.2:c.1057C>T | ENSP00000495806.2:p.Arg353Trp | |
| ENST00000155840.12:c.1597C>T MANE Select | ENSP00000155840.2:p.Arg533Trp | |
| ENST00000335475.6:c.1216C>T | ENSP00000334497.5:p.Arg406Trp | |
| ENST00000646564.1:c.703C>T | ENSP00000495806.1:p.Arg235Trp | |
| ENST00000155840.9:c.1597C>T | ENSP00000155840.2:p.Arg533Trp | |
| ENST00000335475.5:c.1216C>T | ENSP00000334497.5:p.Arg406Trp | |
| NM_000218.2:c.1597C>T , LRG_287t1:c.1597C>T | NP_000209.2:p.Arg533Trp | |
| NM_181798.1:c.1216C>T , LRG_287t2:c.1216C>T | NP_861463.1:p.Arg406Trp | |
| NM_000218.3:c.1597C>T MANE Select | NP_000209.2:p.Arg533Trp |