gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718214dup , CM000674.2:g.12718214dup | GRCh38 |
| NC_000012.11:g.12871148dup , CM000674.1:g.12871148dup | GRCh37 |
| NC_000012.10:g.12762415dup | NCBI36 |
| NG_016341.1:g.5847dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.375dup | ENSP00000507272.1:p.Glu126Ter | |
| ENST00000682620.1:n.1631-611dup | ||
| ENST00000684771.1:n.585-611dup | ||
| ENST00000228872.9:c.375dup MANE Select | ENSP00000228872.4:p.Glu126Ter | |
| ENST00000228872.8:c.375dup | ENSP00000228872.4:p.Glu126Ter | |
| ENST00000396340.1:c.375dup | ENSP00000379629.1:p.Glu126Ter | |
| ENST00000442489.1:c.193+161dup | ENSP00000407597.1:n.193+161dup | |
| ENST00000477087.1:n.155-611dup | ||
| NM_004064.4:c.375dup | NP_004055.1:p.Glu126Ter | |
| NM_004064.5:c.375dup MANE Select | NP_004055.1:p.Glu126Ter |