HGVS | Genome Assembly |
---|---|
NC_000002.12:g.201623442A= , CM000664.2:g.201623442A= | GRCh38 |
NC_000002.11:g.202488165A= , CM000664.1:g.202488165A= | GRCh37 |
NC_000002.10:g.202196410A= | NCBI36 |
NG_032049.1:g.25088T= | |
NG_051007.1:g.741T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000621467.5:c.*813T= | ENSP00000480508.2:n.*813T= | |
ENST00000686475.1:n.1980T= | ||
ENST00000409883.7:c.*813T= MANE Select | ENSP00000386264.2:n.*813T= | |
ENST00000409444.6:c.*813T= | ENSP00000387203.2:n.*813T= | |
ENST00000409883.6:c.*813T= | ENSP00000386264.2:n.*813T= | |
ENST00000495329.1:n.1179T= | ||
NM_001044385.2:c.*813T= | NP_001037850.1:n.*813T= | |
NM_152388.3:c.*813T= | NP_689601.2:n.*813T= | |
NM_001044385.3:c.*813T= MANE Select | NP_001037850.1:n.*813T= | |
NM_152388.4:c.*813T= | NP_689601.2:n.*813T= |