HGVS | Genome Assembly |
---|---|
NC_000020.11:g.64049241G>C , CM000682.2:g.64049241G>C | GRCh38 |
NC_000020.10:g.62680594G>C , CM000682.1:g.62680594G>C | GRCh37 |
NC_000020.9:g.62151038G>C | NCBI36 |
NG_008095.1:g.5386C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000340356.9:c.276C>G (SOX18) MANE Select | ENSP00000341815.7:p.Phe92Leu | |
ENST00000340356.8:c.276C>G (SOX18) | ENSP00000341815.7:p.Phe92Leu | |
NM_018419.2:c.276C>G (SOX18) | NP_060889.1:p.Phe92Leu | |
XM_011529022.1:c.-2320+6846G>C (TCEA2) | XP_011527324.1:n.-2320+6846G>C | |
XM_011529025.1:c.-2236+6846G>C (TCEA2) | XP_011527327.1:n.-2236+6846G>C | |
XM_024451978.1:c.-2236+6846G>C (TCEA2) | XP_024307746.1:n.-2236+6846G>C | |
NM_018419.3:c.276C>G (SOX18) MANE Select | NP_060889.1:p.Phe92Leu |