HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750662G>T , CM000684.2:g.27750662G>T | GRCh38 |
NC_000022.10:g.28146650G>T , CM000684.1:g.28146650G>T | GRCh37 |
NC_000022.9:g.26476650G>T | NCBI36 |
NG_023258.1:g.55837C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.741C>A | ||
ENST00000302326.5:c.*253C>A MANE Select | ENSP00000304956.4:n.*253C>A | |
ENST00000302326.4:c.*253C>A | ENSP00000304956.4:n.*253C>A | |
ENST00000424656.1:c.455+114C>A | ||
NM_002430.2:c.*253C>A | NP_002421.3:n.*253C>A | |
NM_002430.3:c.*253C>A MANE Select | NP_002421.3:n.*253C>A |