HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764148G= , CM000674.2:g.57764148G= | GRCh38 |
NC_000012.11:g.58157931G= , CM000674.1:g.58157931G= | GRCh37 |
NC_000012.10:g.56444198G= | NCBI36 |
NG_007076.1:g.8046C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1246C= | ENSP00000518840.1:p.Arg416= | |
ENST00000713545.1:c.*170C= | ENSP00000518841.1:n.*170C= | |
ENST00000228606.9:c.1165C= MANE Select | ENSP00000228606.4:p.Arg389= | |
ENST00000228606.8:c.1165C= | ENSP00000228606.4:p.Arg389= | |
ENST00000546567.5:c.460C= | ENSP00000449472.1:p.Arg154= | |
ENST00000547344.5:n.1304C= | ||
NM_000785.3:c.1165C= | NP_000776.1:p.Arg389= | |
NM_000785.4:c.1165C= MANE Select | NP_000776.1:p.Arg389= |