Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126739dup , CM000681.2:g.9126739dup | GRCh38 |
| NC_000019.9:g.9237415dup , CM000681.1:g.9237415dup | GRCh37 |
| NC_000019.8:g.9098415dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.212dup MANE Select | ENSP00000302867.2:p.Cys72LeufsTer? | |
| NM_001001958.1:c.212dup MANE Select | NP_001001958.1:p.Cys72LeufsTer? |