HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848295T>A , CM000681.2:g.40848295T>A | GRCh38 |
NC_000019.9:g.41354200T>A , CM000681.1:g.41354200T>A | GRCh37 |
NC_000019.8:g.46046040T>A | NCBI36 |
NG_008377.1:g.7153A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.578A>T MANE Select | ENSP00000301141.4:p.Tyr193Phe | |
ENST00000301141.9:c.578A>T | ENSP00000301141.4:p.Tyr193Phe | |
ENST00000596719.5:n.429A>T | ||
ENST00000600495.1:c.*390A>T | ENSP00000472905.1:n.*390A>T | |
ENST00000601627.1:c.120-43696T>A | ||
ENST00000610301.1:c.578A>T | ENSP00000477899.1:p.Tyr193Phe | |
NM_000762.5:c.578A>T | NP_000753.3:p.Tyr193Phe | |
NM_000762.6:c.578A>T MANE Select | NP_000753.3:p.Tyr193Phe |