HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519948G= , CM000674.2:g.52519948G= | GRCh38 |
NC_000012.11:g.52913732G= , CM000674.1:g.52913732G= | GRCh37 |
NC_000012.10:g.51199999G= | NCBI36 |
NG_008297.1:g.5512C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.349C= MANE Select | ENSP00000252242.4:p.Leu117= | |
ENST00000252242.8:c.349C= | ENSP00000252242.4:p.Leu117= | |
ENST00000546577.1:c.349C= | ENSP00000449651.1:p.Leu117= | |
ENST00000549420.1:c.44-25C= | ENSP00000447209.1:n.44-25C= | |
ENST00000551275.1:c.244C= | ENSP00000448041.1:p.Leu82= | |
ENST00000552629.5:n.447C= | ||
NM_000424.3:c.349C= | NP_000415.2:p.Leu117= | |
NM_000424.4:c.349C= MANE Select | NP_000415.2:p.Leu117= |