HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129528784G>A , CM000665.2:g.129528784G>A | GRCh38 |
NC_000003.11:g.129247627G>A , CM000665.1:g.129247627G>A | GRCh37 |
NC_000003.10:g.130730317G>A | NCBI36 |
NG_009115.1:g.5146G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296271.4:c.51G>A MANE Select | ENSP00000296271.3:p.Thr17= | |
ENST00000296271.3:c.51G>A | ENSP00000296271.3:p.Thr17= | |
NM_000539.3:c.51G>A MANE Select | NP_000530.1:p.Thr17= |