HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52517699T>A , CM000674.2:g.52517699T>A | GRCh38 |
NC_000012.11:g.52911483T>A , CM000674.1:g.52911483T>A | GRCh37 |
NC_000012.10:g.51197750T>A | NCBI36 |
NG_008297.1:g.7761A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.983A>T MANE Select | ENSP00000252242.4:p.Asp328Val | |
ENST00000252242.8:c.983A>T | ENSP00000252242.4:p.Asp328Val | |
ENST00000547890.5:n.112A>T | ||
ENST00000548409.5:c.105A>T | ||
ENST00000549511.5:n.190A>T | ||
ENST00000551013.1:n.621A>T | ||
ENST00000551188.5:c.426A>T | ||
ENST00000552629.5:n.1081A>T | ||
NM_000424.3:c.983A>T | NP_000415.2:p.Asp328Val | |
NM_000424.4:c.983A>T MANE Select | NP_000415.2:p.Asp328Val |