HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192651C>T , CM000685.2:g.50192651C>T | GRCh38 |
NC_000023.10:g.49957302C>T , CM000685.1:g.49957302C>T | GRCh37 |
NC_000023.9:g.49844042C>T | NCBI36 |
NG_012552.1:g.13363G>A | |
NG_012552.2:g.13363G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.2062G>A MANE Select | ENSP00000351327.2:p.Gly688Arg | |
ENST00000358526.6:c.2062G>A | ENSP00000351327.2:p.Gly688Arg | |
ENST00000376064.7:c.2035G>A | ENSP00000365232.3:p.Gly679Arg | |
ENST00000481402.5:n.2174G>A | ||
NM_003886.2:c.2062G>A | NP_003877.2:p.Gly688Arg | |
NM_139289.1:c.2035G>A | NP_647450.1:p.Gly679Arg | |
NM_003886.3:c.2062G>A MANE Select | NP_003877.2:p.Gly688Arg | |
NM_139289.2:c.2035G>A | NP_647450.1:p.Gly679Arg |