HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713295T>G , CM000665.2:g.181713295T>G | GRCh38 |
NC_000003.11:g.181431083T>G , CM000665.1:g.181431083T>G | GRCh37 |
NC_000003.10:g.182913777T>G | NCBI36 |
NG_009080.1:g.6362T>G , LRG_719:g.6362T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.935T>G (SOX2) MANE Select | ENSP00000323588.1:p.Leu312Arg | |
ENST00000325404.2:c.935T>G (SOX2) | ENSP00000323588.1:p.Leu312Arg | |
NM_003106.3:c.935T>G (SOX2) | NP_003097.1:p.Leu312Arg | |
NR_004053.3:n.768-1890T>G (SOX2-OT) | ||
NR_075089.1:n.767+13412T>G (SOX2-OT) | ||
NR_075090.1:n.482-26274T>G (SOX2-OT) | ||
NR_075091.1:n.783-1890T>G (SOX2-OT) | ||
NR_075092.1:n.782+13412T>G (SOX2-OT) | ||
NR_075093.1:n.473-26274T>G (SOX2-OT) | ||
NM_003106.4:c.935T>G (SOX2) MANE Select | NP_003097.1:p.Leu312Arg |