HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764658G= , CM000674.2:g.57764658G= | GRCh38 |
NC_000012.11:g.58158441G= , CM000674.1:g.58158441G= | GRCh37 |
NC_000012.10:g.56444708G= | NCBI36 |
NG_007076.1:g.7536C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1044+96C= | ENSP00000518840.1:n.1044+96C= | |
ENST00000713545.1:c.1021+96C= | ENSP00000518841.1:n.1021+96C= | |
ENST00000228606.9:c.963+96C= MANE Select | ENSP00000228606.4:n.963+96C= | |
ENST00000228606.8:c.963+96C= | ENSP00000228606.4:n.963+96C= | |
ENST00000546567.5:c.258+96C= | ENSP00000449472.1:n.258+96C= | |
ENST00000547344.5:n.1102+96C= | ||
ENST00000547451.1:n.859C= | ||
NM_000785.3:c.963+96C= | NP_000776.1:n.963+96C= | |
NM_000785.4:c.963+96C= MANE Select | NP_000776.1:n.963+96C= |