HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64750327C= , CM000673.2:g.64750327C= | GRCh38 |
NC_000011.9:g.64517799C= , CM000673.1:g.64517799C= | GRCh37 |
NC_000011.8:g.64274375C= | NCBI36 |
NG_007574.1:g.130G= , LRG_100:g.130G= | |
NG_013018.1:g.15389G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.2177+49G= MANE Select | ENSP00000164139.3:n.2177+49G= | |
ENST00000164139.3:c.2177+49G= | ENSP00000164139.3:n.2177+49G= | |
ENST00000377432.7:c.1913+49G= | ENSP00000366650.3:n.1913+49G= | |
NM_001164716.1:c.1913+49G= | NP_001158188.1:n.1913+49G= | |
NM_005609.2:c.2177+49G= | NP_005600.1:n.2177+49G= | |
NM_005609.3:c.2177+49G= | NP_005600.1:n.2177+49G= | |
NM_005609.4:c.2177+49G= MANE Select | NP_005600.1:n.2177+49G= |