gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007259 (EAS)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00006513 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49483504G>A , CM000672.2:g.49483504G>A | GRCh38 |
| NC_000010.10:g.50691550G>A , CM000672.1:g.50691550G>A | GRCh37 |
| NC_000010.9:g.50361556G>A | NCBI36 |
| NG_009442.1:g.60598C>T , LRG_465:g.60598C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1834C>T MANE Select | ENSP00000348089.5:p.Arg612Ter | |
| ENST00000681632.1:n.1912C>T | ||
| ENST00000681659.1:c.1675C>T | ENSP00000505631.1:p.Arg559Ter | |
| ENST00000355832.9:c.1834C>T | ENSP00000348089.5:p.Arg612Ter | |
| ENST00000475116.1:n.288C>T | ||
| ENST00000623073.3:c.*226C>T | ENSP00000485650.1:n.*226C>T | |
| ENST00000623115.3:c.-57C>T | ENSP00000485321.1:n.-57C>T | |
| ENST00000623318.1:c.235C>T | ENSP00000485423.1:p.Arg79Ter | |
| NM_000124.3:c.1834C>T | NP_000115.1:p.Arg612Ter | |
| NM_001346440.1:c.1834C>T | NP_001333369.1:p.Arg612Ter | |
| NM_000124.4:c.1834C>T MANE Select | NP_000115.1:p.Arg612Ter | |
| NM_001346440.2:c.1834C>T | NP_001333369.1:p.Arg612Ter |