HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30304696G= , CM000685.2:g.30304696G= | GRCh38 |
NC_000023.10:g.30322813G= , CM000685.1:g.30322813G= | GRCh37 |
NC_000023.9:g.30232734G= | NCBI36 |
NG_009814.1:g.9683C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.1296C= MANE Select | ENSP00000368253.4:p.Thr432= | |
ENST00000378970.4:c.1296C= | ENSP00000368253.4:p.Thr432= | |
NM_000475.4:c.1296C= | NP_000466.2:p.Thr432= | |
NM_000475.5:c.1296C= MANE Select | NP_000466.2:p.Thr432= |