HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110601746T>A , CM000672.2:g.110601746T>A | GRCh38 |
NC_000010.10:g.112361504T>A , CM000672.1:g.112361504T>A | GRCh37 |
NC_000010.9:g.112351494T>A | NCBI36 |
NG_012217.1:g.39056T>A , LRG_774:g.39056T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.4987T>A | ||
ENST00000685743.1:n.2462T>A | ||
ENST00000686057.1:n.1105T>A | ||
ENST00000689321.1:n.1717T>A | ||
ENST00000689986.1:n.543T>A | ||
ENST00000361804.5:c.2754T>A MANE Select | ENSP00000354720.5:p.Asp918Glu | |
ENST00000361804.4:c.2754T>A | ENSP00000354720.4:p.Asp918Glu | |
NM_005445.3:c.2754T>A , LRG_774t1:c.2754T>A | NP_005436.1:p.Asp918Glu | |
NM_005445.4:c.2754T>A MANE Select | NP_005436.1:p.Asp918Glu |