HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848639G>T , CM000681.2:g.40848639G>T | GRCh38 |
NC_000019.9:g.41354544G>T , CM000681.1:g.41354544G>T | GRCh37 |
NC_000019.8:g.46046384G>T | NCBI36 |
NG_008377.1:g.6809C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301141.10:c.468C>A MANE Select | ENSP00000301141.4:p.Leu156= | |
ENST00000301141.9:c.468C>A | ENSP00000301141.4:p.Leu156= | |
ENST00000596719.5:n.319C>A | ||
ENST00000600495.1:c.*280C>A | ENSP00000472905.1:n.*280C>A | |
ENST00000601627.1:c.120-43352G>T | ||
ENST00000610301.1:c.468C>A | ENSP00000477899.1:p.Leu156= | |
NM_000762.5:c.468C>A | NP_000753.3:p.Leu156= | |
NM_000762.6:c.468C>A MANE Select | NP_000753.3:p.Leu156= |