ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37724918C>T , CM000684.2:g.37724918C>T | GRCh38 |
| NC_000022.10:g.38120925C>T , CM000684.1:g.38120925C>T | GRCh37 |
| NC_000022.9:g.36450871C>T | NCBI36 |
| NG_012857.1:g.32931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.2362C>T MANE Select | ENSP00000496394.1:p.Arg788Ter | |
| ENST00000344404.10:c.*1845C>T | ENSP00000340312.6:n.*1845C>T | |
| ENST00000406386.7:c.2362C>T | ENSP00000384312.3:p.Arg788Ter | |
| ENST00000455236.4:c.3319C>T | ENSP00000477208.1:n.3319C>T | |
| ENST00000492485.5:n.2296C>T | ||
| NM_001039141.2:c.2362C>T | NP_001034230.1:p.Arg788Ter | |
| NM_001039141.3:c.2362C>T MANE Select | NP_001034230.1:p.Arg788Ter |