HGVS | Genome Assembly |
---|---|
NC_000012.12:g.121626921G>A , CM000674.2:g.121626921G>A | GRCh38 |
NC_000012.10:g.120549210G>A | NCBI36 |
NG_007500.1:g.5347G>A , LRG_93:g.5347G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698901.1:n.413G>A | ||
ENST00000617316.2:c.174G>A | ENSP00000482568.2:p.Gln58= | |
ENST00000646827.1:n.372G>A | ||
ENST00000611718.1:c.-16G>A | ENSP00000477953.1:n.-16G>A | |
ENST00000616379.1:c.174G>A | ENSP00000480616.1:p.Gln58= | |
ENST00000617316.1:c.-16G>A | ENSP00000482568.1:n.-16G>A | |
NM_032790.3:c.174G>A , LRG_93t1:c.174G>A | NP_116179.2:p.Gln58= |