HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56042096C>A , CM000674.2:g.56042096C>A | GRCh38 |
NC_000012.11:g.56435880C>A , CM000674.1:g.56435880C>A | GRCh37 |
NC_000012.10:g.54722147C>A | NCBI36 |
NG_023201.1:g.5195C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356464.10:c.-71C>A | ENSP00000348849.5:n.-71C>A | |
ENST00000646449.2:c.-71C>A MANE Select | ENSP00000496643.1:n.-71C>A | |
ENST00000356464.9:c.-71C>A | ENSP00000348849.5:n.-71C>A | |
ENST00000552361.1:c.-35+32C>A | ENSP00000450339.1:n.-35+32C>A | |
NM_001029.3:c.-71C>A | NP_001020.2:n.-71C>A | |
NM_001029.5:c.-71C>A MANE Select | NP_001020.2:n.-71C>A |