Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133353785dup , CM000671.2:g.133353785dup | GRCh38 |
| NC_000009.10:g.135210461dup | NCBI36 |
| NG_008477.1:g.7723dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.480dup MANE Select | ENSP00000361042.3:p.Tyr161LeufsTer19 | |
| ENST00000371974.7:c.480dup | ENSP00000361042.3:p.Tyr161LeufsTer19 | |
| ENST00000437995.1:n.426dup | ||
| ENST00000495952.5:n.470dup | ||
| ENST00000615505.4:c.153dup | ENSP00000482067.1:p.Tyr52LeufsTer19 | |
| NM_001280787.1:c.153dup | NP_001267716.1:p.Tyr52LeufsTer19 | |
| NM_003172.3:c.480dup | NP_003163.1:p.Tyr161LeufsTer19 | |
| XM_011518942.1:c.153dup | XP_011517244.1:p.Tyr52LeufsTer19 | |
| NM_003172.4:c.480dup MANE Select | NP_003163.1:p.Tyr161LeufsTer19 |