HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27751039C>A , CM000684.2:g.27751039C>A | GRCh38 |
NC_000022.10:g.28147027C>A , CM000684.1:g.28147027C>A | GRCh37 |
NC_000022.9:g.26477027C>A | NCBI36 |
NG_023258.1:g.55460G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703102.1:n.364G>T | ||
ENST00000302326.5:c.3839G>T MANE Select | ENSP00000304956.4:p.Cys1280Phe | |
ENST00000302326.4:c.3839G>T | ENSP00000304956.4:p.Cys1280Phe | |
ENST00000424656.1:c.192G>T | ||
ENST00000497225.1:n.195G>T | ||
NM_002430.2:c.3839G>T | NP_002421.3:p.Cys1280Phe | |
NM_002430.3:c.3839G>T MANE Select | NP_002421.3:p.Cys1280Phe |