Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621961dup , CM000676.2:g.49621961dup | GRCh38 |
| NC_000014.8:g.50088679dup , CM000676.1:g.50088679dup | GRCh37 |
| NC_000014.7:g.49158429dup | NCBI36 |
| NG_008920.1:g.6191dup | |
| NG_033054.1:g.3673dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.693dup MANE Select | ENSP00000307423.2:p.His232ThrfsTer? | |
| ENST00000305386.3:c.693dup | ENSP00000307423.2:p.His232ThrfsTer? | |
| NM_002408.3:c.693dup | NP_002399.1:p.His232ThrfsTer? | |
| NM_002408.4:c.693dup MANE Select | NP_002399.1:p.His232ThrfsTer? |