HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135894906C>A , CM000667.2:g.135894906C>A | GRCh38 |
NC_000005.9:g.135230595C>A , CM000667.1:g.135230595C>A | GRCh37 |
NC_000005.8:g.135258494C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274520.2:c.183+534G>T MANE Select | ENSP00000274520.1:n.183+534G>T | |
ENST00000274520.1:c.183+534G>T | ENSP00000274520.1:n.183+534G>T | |
NM_000590.1:c.183+534G>T | NP_000581.1:n.183+534G>T | |
NM_000590.2:c.183+534G>T MANE Select | NP_000581.1:n.183+534G>T |