HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121307356T>A , CM000673.2:g.121307356T>A | GRCh38 |
NC_000011.9:g.121178065T>A , CM000673.1:g.121178065T>A | GRCh37 |
NC_000011.8:g.120683275T>A | NCBI36 |
NG_009446.1:g.19678T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264027.9:c.744T>A MANE Select | ENSP00000264027.4:p.Asp248Glu | |
ENST00000264027.8:c.744T>A | ENSP00000264027.4:p.Asp248Glu | |
ENST00000392789.2:c.744T>A | ENSP00000376539.2:p.Asp248Glu | |
ENST00000527183.1:n.1037T>A | ||
ENST00000534230.5:c.632-101T>A | ENSP00000432550.1:n.632-101T>A | |
NM_001024956.2:c.744T>A | NP_001020127.1:p.Asp248Glu | |
NM_006918.4:c.744T>A | NP_008849.2:p.Asp248Glu | |
NM_006918.5:c.744T>A MANE Select | NP_008849.2:p.Asp248Glu | |
NM_001024956.3:c.744T>A | NP_001020127.1:p.Asp248Glu |