HGVS | Genome Assembly |
---|---|
NC_000004.12:g.134200889T>A , CM000666.2:g.134200889T>A | GRCh38 |
NC_000004.11:g.135122044T>A , CM000666.1:g.135122044T>A | GRCh37 |
NC_000004.10:g.135341494T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000421491.4:c.131A>T MANE Select | ENSP00000463233.1:p.Asp44Val | |
ENST00000421491.3:c.131A>T | ENSP00000463233.1:p.Asp44Val | |
NM_001114734.1:c.305A>T | NP_001108206.2:p.Asp102Val | |
NM_001114734.2:c.131A>T MANE Select | NP_001108206.3:p.Asp44Val | |
NM_001363585.1:c.131A>T | NP_001350514.1:p.Asp44Val | |
XR_001741133.1:n.670A>T | ||
XR_001741134.1:n.670A>T | ||
XR_001741135.1:n.670A>T | ||
XR_001741136.1:n.670A>T | ||
XR_001741137.1:n.670A>T | ||
XR_001741138.1:n.670A>T | ||
XR_001741139.1:n.665A>T |