HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766143G= , CM000674.2:g.57766143G= | GRCh38 |
NC_000012.11:g.58159926G= , CM000674.1:g.58159926G= | GRCh37 |
NC_000012.10:g.56446193G= | NCBI36 |
NG_007076.1:g.6051C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.162C= | ||
ENST00000713544.1:c.250C= | ENSP00000518840.1:p.Arg84= | |
ENST00000713545.1:c.250C= | ENSP00000518841.1:p.Arg84= | |
ENST00000228606.9:c.250C= MANE Select | ENSP00000228606.4:p.Arg84= | |
ENST00000228606.8:c.250C= | ENSP00000228606.4:p.Arg84= | |
ENST00000546496.1:n.78C= | ||
ENST00000546609.1:c.162C= | ||
ENST00000547344.5:n.304C= | ||
ENST00000552186.1:n.369C= | ||
NM_000785.3:c.250C= | NP_000776.1:p.Arg84= | |
NM_000785.4:c.250C= MANE Select | NP_000776.1:p.Arg84= |