HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713047G>T , CM000665.2:g.181713047G>T | GRCh38 |
NC_000003.11:g.181430835G>T , CM000665.1:g.181430835G>T | GRCh37 |
NC_000003.10:g.182913529G>T | NCBI36 |
NG_009080.1:g.6114G>T , LRG_719:g.6114G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.687G>T (SOX2) MANE Select | ENSP00000323588.1:p.Gln229His | |
ENST00000325404.2:c.687G>T (SOX2) | ENSP00000323588.1:p.Gln229His | |
NM_003106.3:c.687G>T (SOX2) | NP_003097.1:p.Gln229His | |
NR_004053.3:n.768-2138G>T (SOX2-OT) | ||
NR_075089.1:n.767+13164G>T (SOX2-OT) | ||
NR_075090.1:n.482-26522G>T (SOX2-OT) | ||
NR_075091.1:n.783-2138G>T (SOX2-OT) | ||
NR_075092.1:n.782+13164G>T (SOX2-OT) | ||
NR_075093.1:n.473-26522G>T (SOX2-OT) | ||
NM_003106.4:c.687G>T (SOX2) MANE Select | NP_003097.1:p.Gln229His |