HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041928C>T , CM000674.2:g.56041928C>T | GRCh38 |
NC_000012.11:g.56435712C>T , CM000674.1:g.56435712C>T | GRCh37 |
NC_000012.10:g.54721979C>T | NCBI36 |
NG_023201.1:g.5027C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.-239C>T | ENSP00000348849.5:n.-239C>T | |
ENST00000646449.2:c.-239C>T MANE Select | ENSP00000496643.1:n.-239C>T | |
ENST00000356464.9:c.-239C>T | ENSP00000348849.5:n.-239C>T | |
ENST00000552361.1:c.-171C>T | ENSP00000450339.1:n.-171C>T | |
NM_001029.3:c.-239C>T | NP_001020.2:n.-239C>T | |
NM_001029.5:c.-239C>T MANE Select | NP_001020.2:n.-239C>T | |
XR_944989.3:n.76G>A | ||
XR_944990.3:n.76G>A |