HGVS | Genome Assembly |
---|---|
NC_000007.14:g.150992496C>G , CM000669.2:g.150992496C>G | GRCh38 |
NC_000007.13:g.150689584C>G , CM000669.1:g.150689584C>G | GRCh37 |
NC_000007.12:g.150320517C>G | NCBI36 |
NG_011992.1:g.6438C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297494.8:c.-52+1196C>G MANE Select | ENSP00000297494.3:n.-52+1196C>G | |
ENST00000297494.7:c.-52+1196C>G | ENSP00000297494.3:n.-52+1196C>G | |
ENST00000461406.5:c.-149+1196C>G | ENSP00000417143.1:n.-149+1196C>G | |
NM_000603.4:c.-52+1196C>G | NP_000594.2:n.-52+1196C>G | |
NM_000603.5:c.-52+1196C>G MANE Select | NP_000594.2:n.-52+1196C>G |