HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945766dup , CM000665.2:g.138945766dup | GRCh38 |
NC_000003.11:g.138664608dup , CM000665.1:g.138664608dup | GRCh37 |
NC_000003.10:g.140147298dup | NCBI36 |
NG_012454.1:g.6377dup | |
NG_029796.1:g.3533dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648323.1:c.959dup MANE Select | ENSP00000497217.1:p.Gln321ProfsTer? | |
ENST00000330315.3:c.959dup | ENSP00000333188.3:p.Gln321ProfsTer? | |
NM_023067.3:c.959dup | NP_075555.1:p.Gln321ProfsTer? | |
NM_023067.4:c.959dup MANE Select | NP_075555.1:p.Gln321ProfsTer? |