HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18785755dup , CM000681.2:g.18785755dup | GRCh38 |
NC_000019.9:g.18896565dup , CM000681.1:g.18896565dup | GRCh37 |
NC_000019.8:g.18757565dup | NCBI36 |
NG_007070.1:g.10551dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1587dup MANE Select | ENSP00000222271.2:p.Asp530ArgfsTer15 | |
ENST00000222271.6:c.1587dup | ENSP00000222271.2:p.Asp530ArgfsTer15 | |
ENST00000425807.1:c.1428dup | ENSP00000403792.1:p.Asp477ArgfsTer15 | |
ENST00000542601.6:c.1488dup | ENSP00000439156.2:p.Asp497ArgfsTer15 | |
NM_000095.2:c.1587dup | NP_000086.2:p.Asp530ArgfsTer15 | |
NM_000095.3:c.1587dup MANE Select | NP_000086.2:p.Asp530ArgfsTer15 |