HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766012G>A , CM000674.2:g.57766012G>A | GRCh38 |
NC_000012.11:g.58159795G>A , CM000674.1:g.58159795G>A | GRCh37 |
NC_000012.10:g.56446062G>A | NCBI36 |
NG_007076.1:g.6182C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.293C>T | ||
ENST00000713544.1:c.381C>T | ENSP00000518840.1:p.Leu127= | |
ENST00000713545.1:c.381C>T | ENSP00000518841.1:p.Leu127= | |
ENST00000228606.9:c.381C>T MANE Select | ENSP00000228606.4:p.Leu127= | |
ENST00000228606.8:c.381C>T | ENSP00000228606.4:p.Leu127= | |
ENST00000546496.1:n.209C>T | ||
ENST00000546609.1:c.293C>T | ||
ENST00000547344.5:n.435C>T | ||
ENST00000552186.1:n.500C>T | ||
NM_000785.3:c.381C>T | NP_000776.1:p.Leu127= | |
NM_000785.4:c.381C>T MANE Select | NP_000776.1:p.Leu127= |