HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041958T>G , CM000674.2:g.56041958T>G | GRCh38 |
NC_000012.11:g.56435742T>G , CM000674.1:g.56435742T>G | GRCh37 |
NC_000012.10:g.54722009T>G | NCBI36 |
NG_023201.1:g.5057T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000356464.10:c.-209T>G | ENSP00000348849.5:n.-209T>G | |
ENST00000646449.2:c.-209T>G MANE Select | ENSP00000496643.1:n.-209T>G | |
ENST00000356464.9:c.-209T>G | ENSP00000348849.5:n.-209T>G | |
ENST00000552361.1:c.-141T>G | ENSP00000450339.1:n.-141T>G | |
NM_001029.3:c.-209T>G | NP_001020.2:n.-209T>G | |
NM_001029.5:c.-209T>G MANE Select | NP_001020.2:n.-209T>G | |
XR_944989.3:n.46A>C | ||
XR_944990.3:n.46A>C |