HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445446T>A , CM000673.2:g.2445446T>A | GRCh38 |
NC_000011.9:g.2466676T>A , CM000673.1:g.2466676T>A | GRCh37 |
NC_000011.8:g.2423252T>A | NCBI36 |
NG_008935.1:g.5456T>A , LRG_287:g.5456T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.87T>A | ENSP00000434560.2:p.Arg29= | |
ENST00000646564.2:c.348T>A | ENSP00000495806.2:p.Arg116= | |
ENST00000155840.12:c.348T>A MANE Select | ENSP00000155840.2:p.Arg116= | |
ENST00000155840.9:c.348T>A | ENSP00000155840.2:p.Arg116= | |
ENST00000345015.4:n.125T>A | ||
ENST00000496887.6:c.87T>A | ENSP00000434560.1:p.Arg29= | |
NM_000218.2:c.348T>A , LRG_287t1:c.348T>A | NP_000209.2:p.Arg116= | |
NM_000218.3:c.348T>A MANE Select | NP_000209.2:p.Arg116= |