Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158333dup , CM000663.2:g.228158333dup | GRCh38 |
| NC_000001.10:g.228346034dup , CM000663.1:g.228346034dup | GRCh37 |
| NC_000001.9:g.226412657dup | NCBI36 |
| NG_011838.1:g.13482dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366714.3:c.575dup MANE Select | ENSP00000355675.2:p.Thr195AspfsTer? | |
| ENST00000366714.2:c.575dup | ENSP00000355675.2:p.Thr195AspfsTer? | |
| NM_020435.3:c.575dup | NP_065168.2:p.Thr195AspfsTer? | |
| NM_020435.4:c.575dup MANE Select | NP_065168.2:p.Thr195AspfsTer? |