HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50697564C>T , CM000684.2:g.50697564C>T | GRCh38 |
NC_000022.10:g.51135992C>T , CM000684.1:g.51135992C>T | GRCh37 |
NC_000022.9:g.49482858C>T | NCBI36 |
NG_008607.2:g.28210C>T | |
NG_070230.1:g.33429C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262795.7:c.948C>T | ENSP00000489147.2:p.Ser316= | |
ENST00000414786.7:n.1532C>T | ||
ENST00000673971.2:c.1305C>T | ENSP00000501192.1:p.Ser435= | |
ENST00000262795.6:c.948C>T | ENSP00000489147.2:p.Ser316= | |
ENST00000673971.1:c.1305C>T | ENSP00000501192.1:p.Ser435= | |
ENST00000673995.1:c.1C>T | ||
ENST00000262795.5:c.1345-1C>T | ENSP00000489147.1:n.1345-1C>T | |
ENST00000414786.6:n.1532C>T | ||
ENST00000445220.5:c.1326C>T | ENSP00000489407.1:p.Cys442= |