HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750887T>C , CM000684.2:g.27750887T>C | GRCh38 |
NC_000022.10:g.28146875T>C , CM000684.1:g.28146875T>C | GRCh37 |
NC_000022.9:g.26476875T>C | NCBI36 |
NG_023258.1:g.55612A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.516A>G | ||
ENST00000302326.5:c.*28A>G MANE Select | ENSP00000304956.4:n.*28A>G | |
ENST00000302326.4:c.*28A>G | ENSP00000304956.4:n.*28A>G | |
ENST00000424656.1:c.344A>G | ||
ENST00000497225.1:n.347A>G | ||
NM_002430.2:c.*28A>G | NP_002421.3:n.*28A>G | |
NM_002430.3:c.*28A>G MANE Select | NP_002421.3:n.*28A>G |