HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713442A>T , CM000665.2:g.181713442A>T | GRCh38 |
NC_000003.11:g.181431230A>T , CM000665.1:g.181431230A>T | GRCh37 |
NC_000003.10:g.182913924A>T | NCBI36 |
NG_009080.1:g.6509A>T , LRG_719:g.6509A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.*128A>T (SOX2) MANE Select | ENSP00000323588.1:n.*128A>T | |
ENST00000325404.2:c.*128A>T (SOX2) | ENSP00000323588.1:n.*128A>T | |
NM_003106.3:c.*128A>T (SOX2) | NP_003097.1:n.*128A>T | |
NR_004053.3:n.768-1743A>T (SOX2-OT) | ||
NR_075089.1:n.767+13559A>T (SOX2-OT) | ||
NR_075090.1:n.482-26127A>T (SOX2-OT) | ||
NR_075091.1:n.783-1743A>T (SOX2-OT) | ||
NR_075092.1:n.782+13559A>T (SOX2-OT) | ||
NR_075093.1:n.473-26127A>T (SOX2-OT) | ||
NM_003106.4:c.*128A>T (SOX2) MANE Select | NP_003097.1:n.*128A>T |