HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945832dup , CM000665.2:g.138945832dup | GRCh38 |
NC_000003.11:g.138664674dup , CM000665.1:g.138664674dup | GRCh37 |
NC_000003.10:g.140147364dup | NCBI36 |
NG_012454.1:g.6310dup | |
NG_029796.1:g.3599dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648323.1:c.892dup MANE Select | ENSP00000497217.1:p.His298ProfsTer? | |
ENST00000330315.3:c.892dup | ENSP00000333188.3:p.His298ProfsTer? | |
NM_023067.3:c.892dup | NP_075555.1:p.His298ProfsTer? | |
NM_023067.4:c.892dup MANE Select | NP_075555.1:p.His298ProfsTer? |