HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110582005A>T , CM000672.2:g.110582005A>T | GRCh38 |
NC_000010.10:g.112341763A>T , CM000672.1:g.112341763A>T | GRCh37 |
NC_000010.9:g.112331753A>T | NCBI36 |
NG_012217.1:g.19315A>T , LRG_774:g.19315A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.763A>T | ||
ENST00000687823.1:n.544A>T | ||
ENST00000689932.1:n.2693A>T | ||
ENST00000691297.1:n.763A>T | ||
ENST00000691527.1:n.1433A>T | ||
ENST00000692792.1:n.749A>T | ||
ENST00000361804.5:c.630A>T MANE Select | ENSP00000354720.5:p.Leu210= | |
ENST00000361804.4:c.630A>T | ENSP00000354720.4:p.Leu210= | |
ENST00000462899.1:n.776A>T | ||
NM_005445.3:c.630A>T , LRG_774t1:c.630A>T | NP_005436.1:p.Leu210= | |
NM_005445.4:c.630A>T MANE Select | NP_005436.1:p.Leu210= |