Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622684dup , CM000670.2:g.10622684dup | GRCh38 |
| NC_000008.10:g.10480194dup , CM000670.1:g.10480194dup | GRCh37 |
| NC_000008.9:g.10517604dup | NCBI36 |
| NG_028035.1:g.37425dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.519dup MANE Select | ENSP00000371923.3:p.Asn174GlufsTer3 | |
| ENST00000329335.3:n.769dup | ||
| ENST00000382483.3:c.519dup | ENSP00000371923.3:p.Asn174GlufsTer3 | |
| NM_178857.5:c.519dup | NP_849188.4:p.Asn174GlufsTer3 | |
| NM_178857.6:c.519dup MANE Select | NP_849188.4:p.Asn174GlufsTer3 |