HGVS | Genome Assembly |
---|---|
NC_000002.12:g.5692798T>G , CM000664.2:g.5692798T>G | GRCh38 |
NC_000002.11:g.5832930T>G , CM000664.1:g.5832930T>G | GRCh37 |
NC_000002.10:g.5750381T>G | NCBI36 |
NG_050751.1:g.5132T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000322002.5:c.77T>G MANE Select | ENSP00000322568.3:p.Phe26Cys | |
ENST00000322002.4:c.77T>G | ENSP00000322568.3:p.Phe26Cys | |
NM_003108.3:c.77T>G | NP_003099.1:p.Phe26Cys | |
NM_003108.4:c.77T>G MANE Select | NP_003099.1:p.Phe26Cys |