HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764420G= , CM000674.2:g.57764420G= | GRCh38 |
NC_000012.11:g.58158203G= , CM000674.1:g.58158203G= | GRCh37 |
NC_000012.10:g.56444470G= | NCBI36 |
NG_007076.1:g.7774C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1175C= | ENSP00000518840.1:p.Ser392= | |
ENST00000713545.1:c.*99C= | ENSP00000518841.1:n.*99C= | |
ENST00000228606.9:c.1094C= MANE Select | ENSP00000228606.4:p.Ser365= | |
ENST00000228606.8:c.1094C= | ENSP00000228606.4:p.Ser365= | |
ENST00000546567.5:c.389C= | ENSP00000449472.1:p.Ser130= | |
ENST00000547344.5:n.1233C= | ||
NM_000785.3:c.1094C= | NP_000776.1:p.Ser365= | |
NM_000785.4:c.1094C= MANE Select | NP_000776.1:p.Ser365= |