HGVS | Genome Assembly |
---|---|
NC_000019.10:g.53889719G>A , CM000681.2:g.53889719G>A | GRCh38 |
NC_000019.9:g.54392973G>A , CM000681.1:g.54392973G>A | GRCh37 |
NC_000019.8:g.59084785G>A | NCBI36 |
NG_009114.1:g.12507G>A , LRG_669:g.12507G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682028.1:c.367G>A | ENSP00000507230.1:p.Gly123Arg | |
ENST00000682268.1:n.665G>A | ||
ENST00000682902.1:n.669G>A | ||
ENST00000683513.1:c.367G>A | ENSP00000506809.1:p.Gly123Arg | |
ENST00000263431.4:c.367G>A MANE Select | ENSP00000263431.3:p.Gly123Arg | |
ENST00000263431.3:c.367G>A | ENSP00000263431.3:p.Gly123Arg | |
ENST00000419486.1:c.-18G>A | ENSP00000387919.2:n.-18G>A | |
ENST00000474397.5:c.-18G>A | ENSP00000471271.1:n.-18G>A | |
ENST00000479081.5:c.-18G>A | ENSP00000471544.1:n.-18G>A | |
NM_001316329.1:c.367G>A | NP_001303258.1:p.Gly123Arg | |
NM_002739.3:c.367G>A , LRG_669t1:c.367G>A | NP_002730.1:p.Gly123Arg | |
NM_002739.4:c.367G>A | NP_002730.1:p.Gly123Arg | |
NM_002739.5:c.367G>A MANE Select | NP_002730.1:p.Gly123Arg | |
NM_001316329.2:c.367G>A | NP_001303258.1:p.Gly123Arg |