HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945897dup , CM000665.2:g.138945897dup | GRCh38 |
NC_000003.11:g.138664739dup , CM000665.1:g.138664739dup | GRCh37 |
NC_000003.10:g.140147429dup | NCBI36 |
NG_012454.1:g.6245dup | |
NG_029796.1:g.3664dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648323.1:c.827dup MANE Select | ENSP00000497217.1:p.Leu277ProfsTer? | |
ENST00000330315.3:c.827dup | ENSP00000333188.3:p.Leu277ProfsTer? | |
NM_023067.3:c.827dup | NP_075555.1:p.Leu277ProfsTer? | |
NM_023067.4:c.827dup MANE Select | NP_075555.1:p.Leu277ProfsTer? |