HGVS | Genome Assembly |
---|---|
NC_000012.12:g.76347128_76347129dup , CM000674.2:g.76347128_76347129dup | GRCh38 |
NC_000012.11:g.76740908_76740909dup , CM000674.1:g.76740908_76740909dup | GRCh37 |
NC_000012.10:g.75265039_75265040dup | NCBI36 |
NG_016357.1:g.6316_6317dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650064.2:c.858_859dup MANE Select | ENSP00000497413.1:p.Gln287LeufsTer12 | |
ENST00000393262.3:c.858_859dup | ENSP00000376946.3:p.Gln287LeufsTer12 | |
NM_024685.3:c.858_859dup | NP_078961.3:p.Gln287LeufsTer12 | |
NM_024685.4:c.858_859dup MANE Select | NP_078961.3:p.Gln287LeufsTer12 |