HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713121T>C , CM000665.2:g.181713121T>C | GRCh38 |
NC_000003.11:g.181430909T>C , CM000665.1:g.181430909T>C | GRCh37 |
NC_000003.10:g.182913603T>C | NCBI36 |
NG_009080.1:g.6188T>C , LRG_719:g.6188T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.761T>C (SOX2) MANE Select | ENSP00000323588.1:p.Val254Ala | |
ENST00000325404.2:c.761T>C (SOX2) | ENSP00000323588.1:p.Val254Ala | |
NM_003106.3:c.761T>C (SOX2) | NP_003097.1:p.Val254Ala | |
NR_004053.3:n.768-2064T>C (SOX2-OT) | ||
NR_075089.1:n.767+13238T>C (SOX2-OT) | ||
NR_075090.1:n.482-26448T>C (SOX2-OT) | ||
NR_075091.1:n.783-2064T>C (SOX2-OT) | ||
NR_075092.1:n.782+13238T>C (SOX2-OT) | ||
NR_075093.1:n.473-26448T>C (SOX2-OT) | ||
NM_003106.4:c.761T>C (SOX2) MANE Select | NP_003097.1:p.Val254Ala |