Revel Score:
ENST00000311322
0.926
ENST00000538071
0.926
ENST00000535763
0.926
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000385 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955873C>T , CM000670.2:g.19955873C>T | GRCh38 |
| NC_000008.10:g.19813384C>T , CM000670.1:g.19813384C>T | GRCh37 |
| NC_000008.9:g.19857664C>T | NCBI36 |
| NG_008855.1:g.21803C>T | |
| NG_008855.2:g.59157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.808C>T MANE Select | ENSP00000497642.1:p.Arg270Cys | |
| ENST00000311322.8:c.808C>T | ENSP00000309757.6:p.Arg270Cys | |
| NM_000237.2:c.808C>T | NP_000228.1:p.Arg270Cys | |
| NM_000237.3:c.808C>T MANE Select | NP_000228.1:p.Arg270Cys |