HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23424129A>T , CM000676.2:g.23424129A>T | GRCh38 |
NC_000014.8:g.23893338A>T , CM000676.1:g.23893338A>T | GRCh37 |
NC_000014.7:g.22963178A>T | NCBI36 |
NG_007884.1:g.16533T>A , LRG_384:g.16533T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.2700T>A MANE Select | ENSP00000347507.3:p.Asp900Glu | |
ENST00000355349.3:c.2700T>A | ENSP00000347507.3:p.Asp900Glu | |
NM_000257.3:c.2700T>A | NP_000248.2:p.Asp900Glu | |
XR_245686.3:n.2806T>A | ||
XM_017021340.1:c.2700T>A | XP_016876829.1:p.Asp900Glu | |
NM_000257.4:c.2700T>A MANE Select | NP_000248.2:p.Asp900Glu |