HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32813367C= , CM000668.2:g.32813367C= | GRCh38 |
NC_000006.11:g.32781144C= , CM000668.1:g.32781144C= | GRCh37 |
NC_000006.10:g.32889122C= | NCBI36 |
NG_009793.3:g.30404G= | |
NG_012008.1:g.8682G= | |
NG_009793.4:g.30404G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.786+73G= MANE Select | ENSP00000390020.2:n.786+73G= | |
ENST00000648009.1:c.786+73G= | ENSP00000496848.1:n.786+73G= | |
ENST00000438763.6:c.786+73G= | ENSP00000390020.2:n.786+73G= | |
ENST00000475235.1:n.1309+73G= | ||
ENST00000488325.5:c.*557+73G= | ENSP00000436618.1:n.*557+73G= | |
NM_002120.3:c.786+73G= | NP_002111.1:n.786+73G= | |
NM_002120.4:c.786+73G= MANE Select | NP_002111.1:n.786+73G= |