HGVS | Genome Assembly |
---|---|
NC_000001.11:g.165419976G>A , CM000663.2:g.165419976G>A | GRCh38 |
NC_000001.10:g.165389213G>A , CM000663.1:g.165389213G>A | GRCh37 |
NC_000001.9:g.163655837G>A | NCBI36 |
NG_029517.1:g.30380C>T | |
NG_029517.2:g.30380C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359842.10:c.336C>T MANE Select | ENSP00000352900.5:p.Ile112= | |
ENST00000359842.9:c.336C>T | ENSP00000352900.5:p.Ile112= | |
ENST00000470566.1:n.261C>T | ||
ENST00000619224.1:c.-34C>T | ENSP00000482458.1:n.-34C>T | |
NM_001256570.1:c.-34C>T | NP_001243499.1:n.-34C>T | |
NM_001256571.1:c.-34C>T | NP_001243500.1:n.-34C>T | |
NM_006917.4:c.336C>T | NP_008848.1:p.Ile112= | |
NM_006917.5:c.336C>T MANE Select | NP_008848.1:p.Ile112= | |
NM_001256571.2:c.-34C>T | NP_001243500.1:n.-34C>T | |
NM_001256570.2:c.-34C>T | NP_001243499.1:n.-34C>T |