HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9126458dup , CM000681.2:g.9126458dup | GRCh38 |
NC_000019.9:g.9237134dup , CM000681.1:g.9237134dup | GRCh37 |
NC_000019.8:g.9098134dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305444.2:c.493dup MANE Select | ENSP00000302867.2:p.Gln165ProfsTer16 | |
NM_001001958.1:c.493dup MANE Select | NP_001001958.1:p.Gln165ProfsTer16 |