HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766240G= , CM000674.2:g.57766240G= | GRCh38 |
NC_000012.11:g.58160023G= , CM000674.1:g.58160023G= | GRCh37 |
NC_000012.10:g.56446290G= | NCBI36 |
NG_007076.1:g.5954C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.108-43C= | ||
ENST00000713544.1:c.196-43C= | ENSP00000518840.1:n.196-43C= | |
ENST00000713545.1:c.196-43C= | ENSP00000518841.1:n.196-43C= | |
ENST00000228606.9:c.196-43C= MANE Select | ENSP00000228606.4:n.196-43C= | |
ENST00000228606.8:c.196-43C= | ENSP00000228606.4:n.196-43C= | |
ENST00000546496.1:n.24-43C= | ||
ENST00000546609.1:c.108-43C= | ||
ENST00000547344.5:n.250-43C= | ||
ENST00000552186.1:n.272C= | ||
NM_000785.3:c.196-43C= | NP_000776.1:n.196-43C= | |
NM_000785.4:c.196-43C= MANE Select | NP_000776.1:n.196-43C= |