HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713091T>A , CM000665.2:g.181713091T>A | GRCh38 |
NC_000003.11:g.181430879T>A , CM000665.1:g.181430879T>A | GRCh37 |
NC_000003.10:g.182913573T>A | NCBI36 |
NG_009080.1:g.6158T>A , LRG_719:g.6158T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.731T>A (SOX2) MANE Select | ENSP00000323588.1:p.Val244Asp | |
ENST00000325404.2:c.731T>A (SOX2) | ENSP00000323588.1:p.Val244Asp | |
NM_003106.3:c.731T>A (SOX2) | NP_003097.1:p.Val244Asp | |
NR_004053.3:n.768-2094T>A (SOX2-OT) | ||
NR_075089.1:n.767+13208T>A (SOX2-OT) | ||
NR_075090.1:n.482-26478T>A (SOX2-OT) | ||
NR_075091.1:n.783-2094T>A (SOX2-OT) | ||
NR_075092.1:n.782+13208T>A (SOX2-OT) | ||
NR_075093.1:n.473-26478T>A (SOX2-OT) | ||
NM_003106.4:c.731T>A (SOX2) MANE Select | NP_003097.1:p.Val244Asp |