Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161418971dup , CM000664.2:g.161418971dup | GRCh38 |
| NC_000002.11:g.162275482dup , CM000664.1:g.162275482dup | GRCh37 |
| NC_000002.10:g.161983728dup | NCBI36 |
| NG_046904.1:g.7863dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006593.4:c.1049dup MANE Select | NP_006584.1:p.Ser351Ter |
| ENST00000389554.8:c.1049dup MANE Select | ENSP00000374205.3:p.Ser351Ter |
| NM_006593.2:c.1049dup | NP_006584.1:p.Ser351Ter |
| NM_006593.3:c.1049dup | NP_006584.1:p.Ser351Ter |
| ENST00000389554.7:c.1049dup | ENSP00000374205.3:p.Ser351Ter |
| ENST00000410035.1:c.188dup | ENSP00000387023.1:p.Ser64Ter |
| ENST00000411412.5:c.254dup | ENSP00000393934.1:p.Ser86Ter |
| ENST00000463544.1:n.2271dup |