gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840114G>T , CM000677.2:g.84840114G>T | GRCh38 |
| NC_000015.9:g.85383345G>T , CM000677.1:g.85383345G>T | GRCh37 |
| NC_000015.8:g.83184349G>T | NCBI36 |
| NG_054748.1:g.28484G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.835G>T MANE Select | ENSP00000258888.6:p.Glu279Ter | |
| ENST00000258888.5:c.1441G>T | ENSP00000258888.5:p.Glu481Ter | |
| NM_020778.4:c.1441G>T | NP_065829.3:p.Glu481Ter | |
| NM_020778.5:c.835G>T MANE Select | NP_065829.4:p.Glu279Ter |