HGVS | Genome Assembly |
---|---|
NC_000007.14:g.37888280A>T , CM000669.2:g.37888280A>T | GRCh38 |
NC_000007.13:g.37927882A>T , CM000669.1:g.37927882A>T | GRCh37 |
NC_000007.12:g.37894407A>T | NCBI36 |
NG_015893.1:g.44684A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000199447.9:c.1251A>T (NME8) MANE Select | ENSP00000199447.4:p.Leu417Phe | |
ENST00000199447.8:c.1251A>T (NME8) | ENSP00000199447.4:p.Leu417Phe | |
ENST00000426106.1:c.*197A>T (NME8) | ENSP00000408841.1:n.*197A>T | |
ENST00000440017.5:c.1251A>T (NME8) | ENSP00000397063.1:p.Leu417Phe | |
ENST00000476620.1:c.-38+30935A>T (EPDR1) | ENSP00000425858.1:n.-38+30935A>T | |
NM_016616.4:c.1251A>T (NME8) | NP_057700.3:p.Leu417Phe | |
NM_016616.5:c.1251A>T (NME8) MANE Select | NP_057700.3:p.Leu417Phe |