HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56042088G>A , CM000674.2:g.56042088G>A | GRCh38 |
NC_000012.11:g.56435872G>A , CM000674.1:g.56435872G>A | GRCh37 |
NC_000012.10:g.54722139G>A | NCBI36 |
NG_023201.1:g.5187G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356464.10:c.-79G>A | ENSP00000348849.5:n.-79G>A | |
ENST00000646449.2:c.-79G>A MANE Select | ENSP00000496643.1:n.-79G>A | |
ENST00000356464.9:c.-79G>A | ENSP00000348849.5:n.-79G>A | |
ENST00000552361.1:c.-35+24G>A | ENSP00000450339.1:n.-35+24G>A | |
NM_001029.3:c.-79G>A | NP_001020.2:n.-79G>A | |
NM_001029.5:c.-79G>A MANE Select | NP_001020.2:n.-79G>A |