HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138946247_138946370dup , CM000665.2:g.138946247_138946370dup | GRCh38 |
NC_000003.11:g.138665089_138665212dup , CM000665.1:g.138665089_138665212dup | GRCh37 |
NC_000003.10:g.140147779_140147902dup | NCBI36 |
NG_012454.1:g.5771_5894dup | |
NG_029796.1:g.4014_4137dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.353_476dup MANE Select | ENSP00000497217.1:p.His159GlnfsTer? | |
ENST00000330315.3:c.353_476dup | ENSP00000333188.3:p.His159GlnfsTer? | |
NM_023067.3:c.353_476dup | NP_075555.1:p.His159GlnfsTer? | |
NM_023067.4:c.353_476dup MANE Select | NP_075555.1:p.His159GlnfsTer? |