HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750781G= , CM000684.2:g.27750781G= | GRCh38 |
NC_000022.10:g.28146769G= , CM000684.1:g.28146769G= | GRCh37 |
NC_000022.9:g.26476769G= | NCBI36 |
NG_023258.1:g.55718C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.622C= | ||
ENST00000302326.5:c.*134C= MANE Select | ENSP00000304956.4:n.*134C= | |
ENST00000302326.4:c.*134C= | ENSP00000304956.4:n.*134C= | |
ENST00000424656.1:c.450C= | ||
ENST00000497225.1:n.453C= | ||
NM_002430.2:c.*134C= | NP_002421.3:n.*134C= | |
NM_002430.3:c.*134C= MANE Select | NP_002421.3:n.*134C= |