HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14871375T>A , CM000667.2:g.14871375T>A | GRCh38 |
NC_000005.9:g.14871484T>A , CM000667.1:g.14871484T>A | GRCh37 |
NC_000005.8:g.14924484T>A | NCBI36 |
NG_008273.1:g.5404A>T | |
NG_008273.2:g.5411A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.73A>T MANE Select | ENSP00000284268.6:p.Ile25Leu | |
ENST00000284268.6:c.73A>T | ENSP00000284268.6:p.Ile25Leu | |
ENST00000505140.1:c.73A>T | ENSP00000426332.1:p.Ile25Leu | |
ENST00000513115.1:n.98A>T | ||
NM_054027.4:c.73A>T | NP_473368.1:p.Ile25Leu | |
XM_011514067.1:c.73A>T | XP_011512369.1:p.Ile25Leu | |
NM_054027.5:c.73A>T | NP_473368.1:p.Ile25Leu | |
NM_054027.6:c.73A>T MANE Select | NP_473368.1:p.Ile25Leu |