HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981447C>A , CM000674.2:g.48981447C>A | GRCh38 |
NC_000012.11:g.49375230C>A , CM000674.1:g.49375230C>A | GRCh37 |
NC_000012.10:g.47661497C>A | NCBI36 |
NG_033141.1:g.7995C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.920C>A MANE Select | ENSP00000293549.3:p.Thr307Lys | |
ENST00000293549.3:c.920C>A | ENSP00000293549.3:p.Thr307Lys | |
ENST00000613114.4:c.887C>A | ENSP00000481240.1:p.Thr296Lys | |
NM_005430.3:c.920C>A | NP_005421.1:p.Thr307Lys | |
NM_005430.4:c.920C>A MANE Select | NP_005421.1:p.Thr307Lys |