gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004182 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004265 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461473G>A , CM000672.2:g.49461473G>A | GRCh38 |
| NC_000010.10:g.50669519G>A , CM000672.1:g.50669519G>A | GRCh37 |
| NC_000010.9:g.50339525G>A | NCBI36 |
| NG_009442.1:g.82629C>T , LRG_465:g.82629C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3862C>T MANE Select | ENSP00000348089.5:p.Arg1288Ter | |
| ENST00000679552.1:n.933C>T | ||
| ENST00000679871.1:n.1008C>T | ||
| ENST00000679974.1:n.911C>T | ||
| ENST00000681632.1:n.5265C>T | ||
| ENST00000681659.1:c.3703C>T | ENSP00000505631.1:p.Arg1235Ter | |
| ENST00000355832.9:c.3862C>T | ENSP00000348089.5:p.Arg1288Ter | |
| ENST00000465653.1:n.184C>T | ||
| ENST00000623073.3:c.*2158C>T | ENSP00000485650.1:n.*2158C>T | |
| ENST00000623115.3:c.1972C>T | ENSP00000485321.1:p.Arg658Ter | |
| ENST00000624341.3:c.1694C>T | ||
| NM_000124.3:c.3862C>T | NP_000115.1:p.Arg1288Ter | |
| XR_945953.1:n.243-10092G>A | ||
| NM_001346440.1:c.3862C>T | NP_001333369.1:p.Arg1288Ter | |
| NM_000124.4:c.3862C>T MANE Select | NP_000115.1:p.Arg1288Ter | |
| NM_001346440.2:c.3862C>T | NP_001333369.1:p.Arg1288Ter |