HGVS | Genome Assembly |
---|---|
NC_000007.14:g.5603318C>A , CM000669.2:g.5603318C>A | GRCh38 |
NC_000007.13:g.5642949C>A , CM000669.1:g.5642949C>A | GRCh37 |
NC_000007.12:g.5609475C>A | NCBI36 |
NG_030004.1:g.15514C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382361.8:c.894C>A MANE Select | ENSP00000371798.3:p.Ile298= | |
ENST00000382361.7:c.894C>A | ENSP00000371798.3:p.Ile298= | |
ENST00000405801.2:c.60C>A | ENSP00000383982.2:p.Ile20= | |
ENST00000444748.5:c.60C>A | ENSP00000404506.1:p.Ile20= | |
ENST00000447103.5:c.60C>A | ENSP00000409967.1:p.Ile20= | |
ENST00000473330.1:n.447C>A | ||
NM_003088.3:c.894C>A | NP_003079.1:p.Ile298= | |
NM_003088.4:c.894C>A MANE Select | NP_003079.1:p.Ile298= |