HGVS | Genome Assembly |
---|---|
NC_000011.10:g.1075714C>G , CM000673.2:g.1075714C>G | GRCh38 |
NC_000011.9:g.1075714C>G , CM000673.1:g.1075714C>G | GRCh37 |
NC_000011.8:g.1065714C>G | NCBI36 |
NG_051929.1:g.5840C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361558.7:n.167C>G | ||
ENST00000675028.1:c.140C>G | ENSP00000502432.1:p.Thr47Ser | |
NM_002457.3:c.140C>G | NP_002448.3:p.Thr47Ser | |
NM_002457.4:c.140C>G | NP_002448.4:p.Thr47Ser |