HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848628A>C , CM000681.2:g.40848628A>C | GRCh38 |
NC_000019.9:g.41354533A>C , CM000681.1:g.41354533A>C | GRCh37 |
NC_000019.8:g.46046373A>C | NCBI36 |
NG_008377.1:g.6820T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.479T>G MANE Select | ENSP00000301141.4:p.Leu160Arg | |
ENST00000301141.9:c.479T>G | ENSP00000301141.4:p.Leu160Arg | |
ENST00000596719.5:n.330T>G | ||
ENST00000600495.1:c.*291T>G | ENSP00000472905.1:n.*291T>G | |
ENST00000601627.1:c.120-43363A>C | ||
ENST00000610301.1:c.479T>G | ENSP00000477899.1:p.Leu160Arg | |
NM_000762.5:c.479T>G | NP_000753.3:p.Leu160Arg | |
NM_000762.6:c.479T>G MANE Select | NP_000753.3:p.Leu160Arg |