HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64751425G= , CM000673.2:g.64751425G= | GRCh38 |
NC_000011.9:g.64518897G= , CM000673.1:g.64518897G= | GRCh37 |
NC_000011.8:g.64275473G= | NCBI36 |
NG_013018.1:g.14291C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.1869C= MANE Select | ENSP00000164139.3:p.Leu623= | |
ENST00000164139.3:c.1869C= | ENSP00000164139.3:p.Leu623= | |
ENST00000377432.7:c.1605C= | ENSP00000366650.3:p.Leu535= | |
ENST00000462303.1:n.193C= | ||
NM_001164716.1:c.1605C= | NP_001158188.1:p.Leu535= | |
NM_005609.2:c.1869C= | NP_005600.1:p.Leu623= | |
NM_005609.3:c.1869C= | NP_005600.1:p.Leu623= | |
NM_005609.4:c.1869C= MANE Select | NP_005600.1:p.Leu623= |