gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002105 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3608539A>T , CM000678.2:g.3608539A>T | GRCh38 |
| NC_000016.9:g.3658540A>T , CM000678.1:g.3658540A>T | GRCh37 |
| NC_000016.8:g.3598541A>T | NCBI36 |
| NG_028123.1:g.8046T>A , LRG_503:g.8046T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697859.1:n.1048T>A | ||
| ENST00000294008.4:c.426T>A MANE Select | ENSP00000294008.3:p.Gly142= | |
| ENST00000294008.3:c.426T>A | ENSP00000294008.3:p.Gly142= | |
| ENST00000466154.5:n.721T>A | ||
| ENST00000486524.1:n.1054T>A | ||
| NM_032444.2:c.426T>A , LRG_503t1:c.426T>A | NP_115820.2:p.Gly142= | |
| XM_011522715.1:c.426T>A | XP_011521017.1:p.Gly142= | |
| NM_032444.3:c.426T>A | NP_115820.2:p.Gly142= | |
| XM_011522715.3:c.426T>A | XP_011521017.1:p.Gly142= | |
| XM_024450471.1:c.426T>A | XP_024306239.1:p.Gly142= | |
| NM_032444.4:c.426T>A MANE Select | NP_115820.2:p.Gly142= |