HGVS | Genome Assembly |
---|---|
NC_000003.12:g.181713102G>A , CM000665.2:g.181713102G>A | GRCh38 |
NC_000003.11:g.181430890G>A , CM000665.1:g.181430890G>A | GRCh37 |
NC_000003.10:g.182913584G>A | NCBI36 |
NG_009080.1:g.6169G>A , LRG_719:g.6169G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325404.3:c.742G>A (SOX2) MANE Select | ENSP00000323588.1:p.Ala248Thr | |
ENST00000325404.2:c.742G>A (SOX2) | ENSP00000323588.1:p.Ala248Thr | |
NM_003106.3:c.742G>A (SOX2) | NP_003097.1:p.Ala248Thr | |
NR_004053.3:n.768-2083G>A (SOX2-OT) | ||
NR_075089.1:n.767+13219G>A (SOX2-OT) | ||
NR_075090.1:n.482-26467G>A (SOX2-OT) | ||
NR_075091.1:n.783-2083G>A (SOX2-OT) | ||
NR_075092.1:n.782+13219G>A (SOX2-OT) | ||
NR_075093.1:n.473-26467G>A (SOX2-OT) | ||
NM_003106.4:c.742G>A (SOX2) MANE Select | NP_003097.1:p.Ala248Thr |