HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181712986C>A , CM000665.2:g.181712986C>A | GRCh38 |
NC_000003.11:g.181430774C>A , CM000665.1:g.181430774C>A | GRCh37 |
NC_000003.10:g.182913468C>A | NCBI36 |
NG_009080.1:g.6053C>A , LRG_719:g.6053C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.626C>A (SOX2) MANE Select | ENSP00000323588.1:p.Ser209Tyr | |
ENST00000325404.2:c.626C>A (SOX2) | ENSP00000323588.1:p.Ser209Tyr | |
NM_003106.3:c.626C>A (SOX2) | NP_003097.1:p.Ser209Tyr | |
NR_004053.3:n.768-2199C>A (SOX2-OT) | ||
NR_075089.1:n.767+13103C>A (SOX2-OT) | ||
NR_075090.1:n.482-26583C>A (SOX2-OT) | ||
NR_075091.1:n.783-2199C>A (SOX2-OT) | ||
NR_075092.1:n.782+13103C>A (SOX2-OT) | ||
NR_075093.1:n.473-26583C>A (SOX2-OT) | ||
NM_003106.4:c.626C>A (SOX2) MANE Select | NP_003097.1:p.Ser209Tyr |