Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874047dup , CM000664.2:g.240874047dup | GRCh38 |
| NC_000002.11:g.241813464dup , CM000664.1:g.241813464dup | GRCh37 |
| NC_000002.10:g.241462137dup | NCBI36 |
| NG_008005.1:g.10303dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.665dup MANE Select | ENSP00000302620.3:p.Ser223GlnfsTer2 | |
| ENST00000307503.3:c.665dup | ENSP00000302620.3:p.Ser223GlnfsTer2 | |
| ENST00000476698.1:n.332+998dup | ||
| NM_000030.2:c.665dup | NP_000021.1:p.Ser223GlnfsTer2 | |
| NM_000030.3:c.665dup MANE Select | NP_000021.1:p.Ser223GlnfsTer2 |