HGVS | Genome Assembly |
---|---|
NC_000020.11:g.6770357dup , CM000682.2:g.6770357dup | GRCh38 |
NC_000020.10:g.6751004dup , CM000682.1:g.6751004dup | GRCh37 |
NC_000020.9:g.6699004dup | NCBI36 |
NG_023233.1:g.7260dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378827.5:c.231dup MANE Select | ENSP00000368104.3:p.Tyr78LeufsTer? | |
ENST00000378827.4:c.231dup | ENSP00000368104.3:p.Tyr78LeufsTer? | |
NM_001200.2:c.231dup | NP_001191.1:p.Tyr78LeufsTer? | |
XM_011529323.1:c.-123+1482dup | XP_011527625.1:n.-123+1482dup | |
NM_001200.3:c.231dup | NP_001191.1:p.Tyr78LeufsTer? | |
NM_001200.4:c.231dup MANE Select | NP_001191.1:p.Tyr78LeufsTer? |