HGVS | Genome Assembly |
---|---|
NC_000012.12:g.121627047C= , CM000674.2:g.121627047C= | GRCh38 |
NC_000012.11:g.122064953C= , CM000674.1:g.122064953C= | GRCh37 |
NC_000012.10:g.120549336C= | NCBI36 |
NG_007500.1:g.5473C= , LRG_93:g.5473C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698901.1:n.425+114C= | ||
ENST00000617316.2:c.300C= | ENSP00000482568.2:p.Ala100= | |
ENST00000646827.1:n.498C= | ||
ENST00000611718.1:c.111C= | ENSP00000477953.1:p.Ala37= | |
ENST00000616379.1:c.300C= | ENSP00000480616.1:p.Ala100= | |
ENST00000617316.1:c.111C= | ENSP00000482568.1:p.Ala37= | |
NM_032790.3:c.300C= , LRG_93t1:c.300C= | NP_116179.2:p.Ala100= |