HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57765174G>A , CM000674.2:g.57765174G>A | GRCh38 |
NC_000012.11:g.58158957G>A , CM000674.1:g.58158957G>A | GRCh37 |
NC_000012.10:g.56445224G>A | NCBI36 |
NG_007076.1:g.7020C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.539C>T | ||
ENST00000713544.1:c.708C>T | ENSP00000518840.1:p.Cys236= | |
ENST00000713545.1:c.685C>T | ENSP00000518841.1:p.Pro229Ser | |
ENST00000228606.9:c.627C>T MANE Select | ENSP00000228606.4:p.Cys209= | |
ENST00000228606.8:c.627C>T | ENSP00000228606.4:p.Cys209= | |
ENST00000546567.5:c.-79C>T | ENSP00000449472.1:n.-79C>T | |
ENST00000546609.1:c.539C>T | ||
ENST00000547344.5:n.766C>T | ||
ENST00000547451.1:n.427C>T | ||
NM_000785.3:c.627C>T | NP_000776.1:p.Cys209= | |
NM_000785.4:c.627C>T MANE Select | NP_000776.1:p.Cys209= |