HGVS | Genome Assembly |
---|---|
NC_000004.12:g.24800052C>G , CM000666.2:g.24800052C>G | GRCh38 |
NC_000004.11:g.24801674C>G , CM000666.1:g.24801674C>G | GRCh37 |
NC_000004.10:g.24410772C>G | NCBI36 |
NG_012213.1:g.9590C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382120.4:c.531C>G MANE Select | ENSP00000371554.3:p.Ala177= | |
ENST00000382120.3:c.531C>G | ENSP00000371554.3:p.Ala177= | |
NM_003102.2:c.531C>G | NP_003093.2:p.Ala177= | |
XR_427488.1:n.721C>G | ||
NM_003102.3:c.531C>G | NP_003093.2:p.Ala177= | |
NM_003102.4:c.531C>G MANE Select | NP_003093.2:p.Ala177= |