HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713090G>C , CM000665.2:g.181713090G>C | GRCh38 |
NC_000003.11:g.181430878G>C , CM000665.1:g.181430878G>C | GRCh37 |
NC_000003.10:g.182913572G>C | NCBI36 |
NG_009080.1:g.6157G>C , LRG_719:g.6157G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.730G>C (SOX2) MANE Select | ENSP00000323588.1:p.Val244Leu | |
ENST00000325404.2:c.730G>C (SOX2) | ENSP00000323588.1:p.Val244Leu | |
NM_003106.3:c.730G>C (SOX2) | NP_003097.1:p.Val244Leu | |
NR_004053.3:n.768-2095G>C (SOX2-OT) | ||
NR_075089.1:n.767+13207G>C (SOX2-OT) | ||
NR_075090.1:n.482-26479G>C (SOX2-OT) | ||
NR_075091.1:n.783-2095G>C (SOX2-OT) | ||
NR_075092.1:n.782+13207G>C (SOX2-OT) | ||
NR_075093.1:n.473-26479G>C (SOX2-OT) | ||
NM_003106.4:c.730G>C (SOX2) MANE Select | NP_003097.1:p.Val244Leu |