HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388356T= , CM000665.2:g.190388356T= | GRCh38 |
NC_000003.11:g.190106145T= , CM000665.1:g.190106145T= | GRCh37 |
NC_000003.10:g.191588839T= | NCBI36 |
NG_008149.1:g.5305T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264734.3:c.27T= MANE Select | ENSP00000264734.3:p.Ala9= | |
ENST00000456423.2:c.27T= | ENSP00000414136.2:p.Ala9= | |
ENST00000264734.2:c.237T= | ENSP00000264734.2:p.Ala79= | |
ENST00000456423.1:c.237T= | ENSP00000414136.1:p.Ala79= | |
ENST00000468220.1:n.306+13753T= | ||
NM_006580.3:c.237T= | NP_006571.1:p.Ala79= | |
NM_001378492.1:c.27T= | NP_001365421.1:p.Ala9= | |
NM_001378493.1:c.27T= | NP_001365422.1:p.Ala9= | |
NM_006580.4:c.27T= MANE Select | NP_006571.2:p.Ala9= |