HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320641G= , CM000667.2:g.159320641G= | GRCh38 |
NC_000005.9:g.158747649G= , CM000667.1:g.158747649G= | GRCh37 |
NC_000005.8:g.158680227G= | NCBI36 |
NG_009618.1:g.14833C= , LRG_71:g.14833C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-148-121C= | ENSP00000512849.1:n.-148-121C= | |
ENST00000696751.1:c.365-121C= | ENSP00000512850.1:n.365-121C= | |
ENST00000231228.3:c.483-121C= MANE Select | ENSP00000231228.2:n.483-121C= | |
ENST00000231228.2:c.483-121C= | ENSP00000231228.2:n.483-121C= | |
NM_002187.2:c.483-121C= , LRG_71t1:c.483-121C= | NP_002178.2:n.483-121C= | |
XR_001742945.1:n.147+45G= | ||
NM_002187.3:c.483-121C= MANE Select | NP_002178.2:n.483-121C= |