HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312760G>A , CM000673.2:g.118312760G>A | GRCh38 |
NC_000011.9:g.118183475G>A , CM000673.1:g.118183475G>A | GRCh37 |
NC_000011.8:g.117688685G>A | NCBI36 |
NG_007383.1:g.13181G>A , LRG_38:g.13181G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.246G>A MANE Select | ENSP00000354566.4:p.Leu82= | |
ENST00000361763.8:c.246G>A | ENSP00000354566.4:p.Leu82= | |
ENST00000526146.5:n.792G>A | ||
ENST00000528435.5:n.799G>A | ||
ENST00000528600.1:c.228G>A | ENSP00000433975.1:p.Leu76= | |
ENST00000529713.5:n.352G>A | ||
ENST00000531913.1:n.617G>A | ||
NM_000733.3:c.246G>A , LRG_38t1:c.246G>A | NP_000724.1:p.Leu82= | |
NM_000733.4:c.246G>A MANE Select | NP_000724.1:p.Leu82= |