ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008833 (EAS)
Exomes Max Group AF
0.00008199 (EAS)
Revel Score:
ENST00000296051 (MANE Select)
0.715
ENST00000460120
0.715
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149150624C>T , CM000665.2:g.149150624C>T | GRCh38 |
| NC_000003.11:g.148868411C>T , CM000665.1:g.148868411C>T | GRCh37 |
| NC_000003.10:g.150351101C>T | NCBI36 |
| NG_009847.1:g.26041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296051.7:c.1189C>T MANE Select | ENSP00000296051.2:p.Arg397Trp | |
| ENST00000296051.6:c.1189C>T | ENSP00000296051.2:p.Arg397Trp | |
| ENST00000460120.5:c.694C>T | ENSP00000418230.1:p.Arg232Trp | |
| ENST00000462030.5:n.1788C>T | ||
| ENST00000486530.1:n.1222C>T | ||
| NM_001308258.1:c.694C>T | NP_001295187.1:p.Arg232Trp | |
| NM_032383.3:c.1189C>T | NP_115759.2:p.Arg397Trp | |
| NM_032383.4:c.1189C>T | NP_115759.2:p.Arg397Trp | |
| XM_005247834.3:c.1189C>T | XP_005247891.1:p.Arg397Trp | |
| XM_006713788.1:c.1189C>T | XP_006713851.1:p.Arg397Trp | |
| XR_924201.1:n.1304C>T | ||
| XM_005247834.4:c.1189C>T | XP_005247891.1:p.Arg397Trp | |
| XM_017007323.2:c.1189C>T | XP_016862812.1:p.Arg397Trp | |
| XR_001740326.2:n.1289C>T | ||
| XR_001740327.2:n.1289C>T | ||
| XR_001740328.2:n.1289C>T | ||
| XR_924201.3:n.1289C>T | ||
| NM_001308258.2:c.694C>T | NP_001295187.1:p.Arg232Trp | |
| NM_032383.5:c.1189C>T MANE Select | NP_115759.2:p.Arg397Trp |