HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312730T>A , CM000673.2:g.118312730T>A | GRCh38 |
NC_000011.9:g.118183445T>A , CM000673.1:g.118183445T>A | GRCh37 |
NC_000011.8:g.117688655T>A | NCBI36 |
NG_007383.1:g.13151T>A , LRG_38:g.13151T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.216T>A MANE Select | ENSP00000354566.4:p.Asp72Glu | |
ENST00000361763.8:c.216T>A | ENSP00000354566.4:p.Asp72Glu | |
ENST00000526146.5:n.762T>A | ||
ENST00000528435.5:n.769T>A | ||
ENST00000528600.1:c.198T>A | ENSP00000433975.1:p.Asp66Glu | |
ENST00000529713.5:n.322T>A | ||
ENST00000531913.1:n.587T>A | ||
NM_000733.3:c.216T>A , LRG_38t1:c.216T>A | NP_000724.1:p.Asp72Glu | |
NM_000733.4:c.216T>A MANE Select | NP_000724.1:p.Asp72Glu |