HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445442A>T , CM000673.2:g.2445442A>T | GRCh38 |
NC_000011.9:g.2466672A>T , CM000673.1:g.2466672A>T | GRCh37 |
NC_000011.8:g.2423248A>T | NCBI36 |
NG_008935.1:g.5452A>T , LRG_287:g.5452A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000496887.7:c.83A>T | ENSP00000434560.2:p.Glu28Val | |
ENST00000646564.2:c.344A>T | ENSP00000495806.2:p.Glu115Val | |
ENST00000155840.12:c.344A>T MANE Select | ENSP00000155840.2:p.Glu115Val | |
ENST00000155840.9:c.344A>T | ENSP00000155840.2:p.Glu115Val | |
ENST00000345015.4:n.121A>T | ||
ENST00000496887.6:c.83A>T | ENSP00000434560.1:p.Glu28Val | |
NM_000218.2:c.344A>T , LRG_287t1:c.344A>T | NP_000209.2:p.Glu115Val | |
NM_000218.3:c.344A>T MANE Select | NP_000209.2:p.Glu115Val |