HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64758513C= , CM000673.2:g.64758513C= | GRCh38 |
NC_000011.9:g.64525985C= , CM000673.1:g.64525985C= | GRCh37 |
NC_000011.8:g.64282561C= | NCBI36 |
NG_013018.1:g.7203G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.348G= MANE Select | ENSP00000164139.3:p.Leu116= | |
ENST00000164139.3:c.348G= | ENSP00000164139.3:p.Leu116= | |
ENST00000377432.7:c.244-247G= | ENSP00000366650.3:n.244-247G= | |
NM_001164716.1:c.244-247G= | NP_001158188.1:n.244-247G= | |
NM_005609.2:c.348G= | NP_005600.1:p.Leu116= | |
NM_005609.3:c.348G= | NP_005600.1:p.Leu116= | |
NM_005609.4:c.348G= MANE Select | NP_005600.1:p.Leu116= |