HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154379395C>G , CM000685.2:g.154379395C>G | GRCh38 |
NC_000023.10:g.153607755C>G , CM000685.1:g.153607755C>G | GRCh37 |
NC_000023.9:g.153260949C>G | NCBI36 |
NG_008677.1:g.9960C>G , LRG_745:g.9960C>G | |
NG_011506.1:g.252G>C | |
NG_011506.2:g.244G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369842.9:c.-90C>G MANE Select | ENSP00000358857.4:n.-90C>G | |
ENST00000369835.3:c.-90C>G | ENSP00000358850.3:n.-90C>G | |
ENST00000369842.8:c.-90C>G | ENSP00000358857.4:n.-90C>G | |
ENST00000428228.5:c.-90C>G | ENSP00000401081.1:n.-90C>G | |
ENST00000486738.5:n.55C>G | ||
NM_000117.2:c.-90C>G , LRG_745t1:c.-90C>G | NP_000108.1:n.-90C>G | |
XM_024452349.1:c.-298C>G | XP_024308117.1:n.-298C>G | |
NM_000117.3:c.-90C>G MANE Select | NP_000108.1:n.-90C>G |