HGVS | Genome Assembly |
---|---|
NC_000015.10:g.23644563A>T , CM000677.2:g.23644563A>T | GRCh38 |
NC_000015.9:g.23889710A>T , CM000677.1:g.23889710A>T | GRCh37 |
NC_000015.8:g.21440803A>T | NCBI36 |
NG_016776.1:g.8284T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650528.1:c.3180T>A MANE Select | ENSP00000497810.1:p.Asp1060Glu | |
ENST00000532292.2:c.3180T>A | ENSP00000433433.2:p.Asp1060Glu | |
NM_019066.4:c.3180T>A | NP_061939.3:p.Asp1060Glu | |
NM_019066.5:c.3180T>A MANE Select | NP_061939.3:p.Asp1060Glu |