HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57765111C>A , CM000674.2:g.57765111C>A | GRCh38 |
NC_000012.11:g.58158894C>A , CM000674.1:g.58158894C>A | GRCh37 |
NC_000012.10:g.56445161C>A | NCBI36 |
NG_007076.1:g.7083G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000546609.2:n.602G>T | ||
ENST00000713544.1:c.771G>T | ENSP00000518840.1:p.Val257= | |
ENST00000713545.1:c.748G>T | ENSP00000518841.1:p.Val250Phe | |
ENST00000228606.9:c.690G>T MANE Select | ENSP00000228606.4:p.Val230= | |
ENST00000228606.8:c.690G>T | ENSP00000228606.4:p.Val230= | |
ENST00000546567.5:c.-16G>T | ENSP00000449472.1:n.-16G>T | |
ENST00000546609.1:c.602G>T | ||
ENST00000547344.5:n.829G>T | ||
ENST00000547451.1:n.490G>T | ||
NM_000785.3:c.690G>T | NP_000776.1:p.Val230= | |
NM_000785.4:c.690G>T MANE Select | NP_000776.1:p.Val230= |