HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713405T>G , CM000665.2:g.181713405T>G | GRCh38 |
NC_000003.11:g.181431193T>G , CM000665.1:g.181431193T>G | GRCh37 |
NC_000003.10:g.182913887T>G | NCBI36 |
NG_009080.1:g.6472T>G , LRG_719:g.6472T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.*91T>G (SOX2) MANE Select | ENSP00000323588.1:n.*91T>G | |
ENST00000325404.2:c.*91T>G (SOX2) | ENSP00000323588.1:n.*91T>G | |
NM_003106.3:c.*91T>G (SOX2) | NP_003097.1:n.*91T>G | |
NR_004053.3:n.768-1780T>G (SOX2-OT) | ||
NR_075089.1:n.767+13522T>G (SOX2-OT) | ||
NR_075090.1:n.482-26164T>G (SOX2-OT) | ||
NR_075091.1:n.783-1780T>G (SOX2-OT) | ||
NR_075092.1:n.782+13522T>G (SOX2-OT) | ||
NR_075093.1:n.473-26164T>G (SOX2-OT) | ||
NM_003106.4:c.*91T>G (SOX2) MANE Select | NP_003097.1:n.*91T>G |