HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713456C>A , CM000665.2:g.181713456C>A | GRCh38 |
NC_000003.11:g.181431244C>A , CM000665.1:g.181431244C>A | GRCh37 |
NC_000003.10:g.182913938C>A | NCBI36 |
NG_009080.1:g.6523C>A , LRG_719:g.6523C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.*142C>A (SOX2) MANE Select | ENSP00000323588.1:n.*142C>A | |
ENST00000325404.2:c.*142C>A (SOX2) | ENSP00000323588.1:n.*142C>A | |
NM_003106.3:c.*142C>A (SOX2) | NP_003097.1:n.*142C>A | |
NR_004053.3:n.768-1729C>A (SOX2-OT) | ||
NR_075089.1:n.767+13573C>A (SOX2-OT) | ||
NR_075090.1:n.482-26113C>A (SOX2-OT) | ||
NR_075091.1:n.783-1729C>A (SOX2-OT) | ||
NR_075092.1:n.782+13573C>A (SOX2-OT) | ||
NR_075093.1:n.473-26113C>A (SOX2-OT) | ||
NM_003106.4:c.*142C>A (SOX2) MANE Select | NP_003097.1:n.*142C>A |