HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56042073C>G , CM000674.2:g.56042073C>G | GRCh38 |
NC_000012.11:g.56435857C>G , CM000674.1:g.56435857C>G | GRCh37 |
NC_000012.10:g.54722124C>G | NCBI36 |
NG_023201.1:g.5172C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356464.10:c.-94C>G | ENSP00000348849.5:n.-94C>G | |
ENST00000646449.2:c.-94C>G MANE Select | ENSP00000496643.1:n.-94C>G | |
ENST00000356464.9:c.-94C>G | ENSP00000348849.5:n.-94C>G | |
ENST00000552361.1:c.-35+9C>G | ENSP00000450339.1:n.-35+9C>G | |
NM_001029.3:c.-94C>G | NP_001020.2:n.-94C>G | |
NM_001029.5:c.-94C>G MANE Select | NP_001020.2:n.-94C>G |