HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766071A>T , CM000674.2:g.57766071A>T | GRCh38 |
NC_000012.11:g.58159854A>T , CM000674.1:g.58159854A>T | GRCh37 |
NC_000012.10:g.56446121A>T | NCBI36 |
NG_007076.1:g.6123T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.234T>A | ||
ENST00000713544.1:c.322T>A | ENSP00000518840.1:p.Cys108Ser | |
ENST00000713545.1:c.322T>A | ENSP00000518841.1:p.Cys108Ser | |
ENST00000228606.9:c.322T>A MANE Select | ENSP00000228606.4:p.Cys108Ser | |
ENST00000228606.8:c.322T>A | ENSP00000228606.4:p.Cys108Ser | |
ENST00000546496.1:n.150T>A | ||
ENST00000546609.1:c.234T>A | ||
ENST00000547344.5:n.376T>A | ||
ENST00000552186.1:n.441T>A | ||
NM_000785.3:c.322T>A | NP_000776.1:p.Cys108Ser | |
NM_000785.4:c.322T>A MANE Select | NP_000776.1:p.Cys108Ser |