HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750769T>C , CM000684.2:g.27750769T>C | GRCh38 |
NC_000022.10:g.28146757T>C , CM000684.1:g.28146757T>C | GRCh37 |
NC_000022.9:g.26476757T>C | NCBI36 |
NG_023258.1:g.55730A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.634A>G | ||
ENST00000302326.5:c.*146A>G MANE Select | ENSP00000304956.4:n.*146A>G | |
ENST00000302326.4:c.*146A>G | ENSP00000304956.4:n.*146A>G | |
ENST00000424656.1:c.455+7A>G | ||
ENST00000497225.1:n.465A>G | ||
NM_002430.2:c.*146A>G | NP_002421.3:n.*146A>G | |
NM_002430.3:c.*146A>G MANE Select | NP_002421.3:n.*146A>G |