HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154379407G>T , CM000685.2:g.154379407G>T | GRCh38 |
NC_000023.10:g.153607767G>T , CM000685.1:g.153607767G>T | GRCh37 |
NC_000023.9:g.153260961G>T | NCBI36 |
NG_008677.1:g.9972G>T , LRG_745:g.9972G>T | |
NG_011506.1:g.240C>A | |
NG_011506.2:g.232C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369842.9:c.-78G>T MANE Select | ENSP00000358857.4:n.-78G>T | |
ENST00000369835.3:c.-78G>T | ENSP00000358850.3:n.-78G>T | |
ENST00000369842.8:c.-78G>T | ENSP00000358857.4:n.-78G>T | |
ENST00000428228.5:c.-78G>T | ENSP00000401081.1:n.-78G>T | |
ENST00000485261.1:n.4G>T | ||
ENST00000486738.5:n.67G>T | ||
NM_000117.2:c.-78G>T , LRG_745t1:c.-78G>T | NP_000108.1:n.-78G>T | |
XM_024452349.1:c.-286G>T | XP_024308117.1:n.-286G>T | |
NM_000117.3:c.-78G>T MANE Select | NP_000108.1:n.-78G>T |