ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00072442 (NFE)
Genomes Max Group AF
0.00066395 (NFE)
Exomes Max Group AF
0.00071927 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45148423C>T , CM000677.2:g.45148423C>T | GRCh38 |
| NC_000015.9:g.45440621C>T , CM000677.1:g.45440621C>T | GRCh37 |
| NC_000015.8:g.43227913C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321429.8:c.2794C>T | ENSP00000317997.4:p.Arg932Cys | |
| ENST00000389037.7:c.2794C>T MANE Select | ENSP00000373689.3:p.Arg932Cys | |
| ENST00000557893.5:n.195C>T | ||
| ENST00000559219.1:n.359C>T | ||
| ENST00000561166.1:c.1732C>T | ENSP00000454065.1:p.Arg578Cys | |
| ENST00000561220.6:c.*1333C>T | ENSP00000452623.1:n.*1333C>T | |
| NM_017434.4:c.2794C>T | NP_059130.2:p.Arg932Cys | |
| NM_175940.2:c.2794C>T | NP_787954.1:p.Arg932Cys | |
| XM_011521681.1:c.2677C>T | XP_011519983.1:p.Arg893Cys | |
| XM_011521682.1:c.1732C>T | XP_011519984.1:p.Arg578Cys | |
| XM_011521681.2:c.2677C>T | XP_011519983.1:p.Arg893Cys | |
| NM_175940.3:c.2794C>T MANE Select | NP_787954.1:p.Arg932Cys | |
| NM_017434.5:c.2794C>T | NP_059130.2:p.Arg932Cys |