Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114060930C>T , CM000671.2:g.114060930C>T | GRCh38 |
| NC_000009.11:g.116823210C>T , CM000671.1:g.116823210C>T | GRCh37 |
| NC_000009.10:g.115863031C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001633.4:c.1022G>A MANE Select | NP_001624.1:p.Gly341Asp |
| ENST00000265132.8:c.1022G>A MANE Select | ENSP00000265132.3:p.Gly341Asp |
| NM_001633.3:c.1022G>A | NP_001624.1:p.Gly341Asp |
| ENST00000265132.7:c.1022G>A | ENSP00000265132.3:p.Gly341Asp |
| ENST00000540645.5:n.1336G>A | |
| XR_930257.1:n.531+1694C>T |