HGVS | Genome Assembly |
---|---|
NC_000001.11:g.165419967T>C , CM000663.2:g.165419967T>C | GRCh38 |
NC_000001.10:g.165389204T>C , CM000663.1:g.165389204T>C | GRCh37 |
NC_000001.9:g.163655828T>C | NCBI36 |
NG_029517.1:g.30389A>G | |
NG_029517.2:g.30389A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359842.10:c.345A>G MANE Select | ENSP00000352900.5:p.Leu115= | |
ENST00000359842.9:c.345A>G | ENSP00000352900.5:p.Leu115= | |
ENST00000470566.1:n.270A>G | ||
ENST00000619224.1:c.-25A>G | ENSP00000482458.1:n.-25A>G | |
NM_001256570.1:c.-25A>G | NP_001243499.1:n.-25A>G | |
NM_001256571.1:c.-25A>G | NP_001243500.1:n.-25A>G | |
NM_006917.4:c.345A>G | NP_008848.1:p.Leu115= | |
NM_006917.5:c.345A>G MANE Select | NP_008848.1:p.Leu115= | |
NM_001256571.2:c.-25A>G | NP_001243500.1:n.-25A>G | |
NM_001256570.2:c.-25A>G | NP_001243499.1:n.-25A>G |