HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29534242G>T , CM000679.2:g.29534242G>T | GRCh38 |
NC_000017.10:g.27861260G>T , CM000679.1:g.27861260G>T | GRCh37 |
NC_000017.9:g.24885386G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261716.8:c.2486G>T MANE Select | ENSP00000261716.3:p.Arg829Leu | |
ENST00000261716.7:c.2486G>T | ENSP00000261716.3:p.Arg829Leu | |
ENST00000536202.1:c.2042G>T | ENSP00000438819.1:p.Arg681Leu | |
NM_020791.2:c.2486G>T | NP_065842.1:p.Arg829Leu | |
NM_025142.1:c.2042G>T | NP_079418.1:p.Arg681Leu | |
XM_011525060.1:c.2486G>T | XP_011523362.1:p.Arg829Leu | |
XM_011525060.2:c.2486G>T | XP_011523362.1:p.Arg829Leu | |
NM_020791.4:c.2486G>T MANE Select | NP_065842.1:p.Arg829Leu |