HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154379420C>A , CM000685.2:g.154379420C>A | GRCh38 |
NC_000023.10:g.153607780C>A , CM000685.1:g.153607780C>A | GRCh37 |
NC_000023.9:g.153260974C>A | NCBI36 |
NG_008677.1:g.9985C>A , LRG_745:g.9985C>A | |
NG_011506.1:g.227G>T | |
NG_011506.2:g.219G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682114.1:c.-65C>A | ENSP00000507245.1:n.-65C>A | |
ENST00000369842.9:c.-65C>A MANE Select | ENSP00000358857.4:n.-65C>A | |
ENST00000369835.3:c.-65C>A | ENSP00000358850.3:n.-65C>A | |
ENST00000369842.8:c.-65C>A | ENSP00000358857.4:n.-65C>A | |
ENST00000428228.5:c.-65C>A | ENSP00000401081.1:n.-65C>A | |
ENST00000485261.1:n.17C>A | ||
ENST00000486738.5:n.80C>A | ||
NM_000117.2:c.-65C>A , LRG_745t1:c.-65C>A | NP_000108.1:n.-65C>A | |
XM_024452349.1:c.-273C>A | XP_024308117.1:n.-273C>A | |
NM_000117.3:c.-65C>A MANE Select | NP_000108.1:n.-65C>A |