HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15930521A>T , CM000663.2:g.15930521A>T | GRCh38 |
NC_000001.10:g.16257016A>T , CM000663.1:g.16257016A>T | GRCh37 |
NC_000001.9:g.16129603A>T | NCBI36 |
NG_050663.1:g.87658A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438066.2:c.*5132A>T | ENSP00000388021.2:n.*5132A>T | |
ENST00000375759.8:c.4281A>T MANE Select | ENSP00000364912.3:p.Glu1427Asp | |
ENST00000375759.7:c.4281A>T | ENSP00000364912.3:p.Glu1427Asp | |
NM_015001.2:c.4281A>T | NP_055816.2:p.Glu1427Asp | |
NM_015001.3:c.4281A>T MANE Select | NP_055816.2:p.Glu1427Asp |