HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713048C>G , CM000665.2:g.181713048C>G | GRCh38 |
NC_000003.11:g.181430836C>G , CM000665.1:g.181430836C>G | GRCh37 |
NC_000003.10:g.182913530C>G | NCBI36 |
NG_009080.1:g.6115C>G , LRG_719:g.6115C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.688C>G (SOX2) MANE Select | ENSP00000323588.1:p.Gln230Glu | |
ENST00000325404.2:c.688C>G (SOX2) | ENSP00000323588.1:p.Gln230Glu | |
NM_003106.3:c.688C>G (SOX2) | NP_003097.1:p.Gln230Glu | |
NR_004053.3:n.768-2137C>G (SOX2-OT) | ||
NR_075089.1:n.767+13165C>G (SOX2-OT) | ||
NR_075090.1:n.482-26521C>G (SOX2-OT) | ||
NR_075091.1:n.783-2137C>G (SOX2-OT) | ||
NR_075092.1:n.782+13165C>G (SOX2-OT) | ||
NR_075093.1:n.473-26521C>G (SOX2-OT) | ||
NM_003106.4:c.688C>G (SOX2) MANE Select | NP_003097.1:p.Gln230Glu |