HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190404917C= , CM000665.2:g.190404917C= | GRCh38 |
NC_000003.11:g.190122706C= , CM000665.1:g.190122706C= | GRCh37 |
NC_000003.10:g.191605400C= | NCBI36 |
NG_008149.1:g.21866C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.373C= MANE Select | ENSP00000264734.3:p.Leu125= | |
ENST00000456423.2:c.115-4986C= | ENSP00000414136.2:n.115-4986C= | |
ENST00000264734.2:c.583C= | ENSP00000264734.2:p.Leu195= | |
ENST00000456423.1:c.325-4986C= | ENSP00000414136.1:n.325-4986C= | |
ENST00000468220.1:n.565C= | ||
NM_006580.3:c.583C= | NP_006571.1:p.Leu195= | |
NM_001378492.1:c.373C= | NP_001365421.1:p.Leu125= | |
NM_001378493.1:c.373C= | NP_001365422.1:p.Leu125= | |
NM_006580.4:c.373C= MANE Select | NP_006571.2:p.Leu125= |