HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750385C>T , CM000684.2:g.27750385C>T | GRCh38 |
NC_000022.10:g.28146373C>T , CM000684.1:g.28146373C>T | GRCh37 |
NC_000022.9:g.26476373C>T | NCBI36 |
NG_023258.1:g.56114G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.1018G>A | ||
ENST00000302326.5:c.*530G>A MANE Select | ENSP00000304956.4:n.*530G>A | |
ENST00000302326.4:c.*530G>A | ENSP00000304956.4:n.*530G>A | |
ENST00000424656.1:c.456-157G>A | ||
NM_002430.2:c.*530G>A | NP_002421.3:n.*530G>A | |
NM_002430.3:c.*530G>A MANE Select | NP_002421.3:n.*530G>A |