HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110578652T>A , CM000672.2:g.110578652T>A | GRCh38 |
NC_000010.10:g.112338410T>A , CM000672.1:g.112338410T>A | GRCh37 |
NC_000010.9:g.112328400T>A | NCBI36 |
NG_012217.1:g.15962T>A , LRG_774:g.15962T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.508T>A | ||
ENST00000687823.1:n.289T>A | ||
ENST00000689932.1:n.2438T>A | ||
ENST00000691297.1:n.508T>A | ||
ENST00000691527.1:n.1178T>A | ||
ENST00000692792.1:n.494T>A | ||
ENST00000361804.5:c.375T>A MANE Select | ENSP00000354720.5:p.Leu125= | |
ENST00000361804.4:c.375T>A | ENSP00000354720.4:p.Leu125= | |
ENST00000462899.1:n.521T>A | ||
NM_005445.3:c.375T>A , LRG_774t1:c.375T>A | NP_005436.1:p.Leu125= | |
NM_005445.4:c.375T>A MANE Select | NP_005436.1:p.Leu125= |