HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750779G>T , CM000684.2:g.27750779G>T | GRCh38 |
NC_000022.10:g.28146767G>T , CM000684.1:g.28146767G>T | GRCh37 |
NC_000022.9:g.26476767G>T | NCBI36 |
NG_023258.1:g.55720C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.624C>A | ||
ENST00000302326.5:c.*136C>A MANE Select | ENSP00000304956.4:n.*136C>A | |
ENST00000302326.4:c.*136C>A | ENSP00000304956.4:n.*136C>A | |
ENST00000424656.1:c.452C>A | ||
ENST00000497225.1:n.455C>A | ||
NM_002430.2:c.*136C>A | NP_002421.3:n.*136C>A | |
NM_002430.3:c.*136C>A MANE Select | NP_002421.3:n.*136C>A |