HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320420C>A , CM000667.2:g.159320420C>A | GRCh38 |
NC_000005.9:g.158747428C>A , CM000667.1:g.158747428C>A | GRCh37 |
NC_000005.8:g.158680006C>A | NCBI36 |
NG_009618.1:g.15054G>T , LRG_71:g.15054G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-48G>T | ENSP00000512849.1:n.-48G>T | |
ENST00000696751.1:c.*78G>T | ENSP00000512850.1:n.*78G>T | |
ENST00000231228.3:c.583G>T MANE Select | ENSP00000231228.2:p.Glu195Ter | |
ENST00000231228.2:c.583G>T | ENSP00000231228.2:p.Glu195Ter | |
NM_002187.2:c.583G>T , LRG_71t1:c.583G>T | NP_002178.2:p.Glu195Ter | |
NM_002187.3:c.583G>T MANE Select | NP_002178.2:p.Glu195Ter |