HGVS | Genome Assembly |
---|---|
NC_000007.14:g.37888243C= , CM000669.2:g.37888243C= | GRCh38 |
NC_000007.13:g.37927845C= , CM000669.1:g.37927845C= | GRCh37 |
NC_000007.12:g.37894370C= | NCBI36 |
NG_015893.1:g.44647C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000199447.9:c.1248-34C= (NME8) MANE Select | ENSP00000199447.4:n.1248-34C= | |
ENST00000199447.8:c.1248-34C= (NME8) | ENSP00000199447.4:n.1248-34C= | |
ENST00000426106.1:c.*194-34C= (NME8) | ENSP00000408841.1:n.*194-34C= | |
ENST00000440017.5:c.1248-34C= (NME8) | ENSP00000397063.1:n.1248-34C= | |
ENST00000476620.1:c.-38+30898C= (EPDR1) | ENSP00000425858.1:n.-38+30898C= | |
NM_016616.4:c.1248-34C= (NME8) | NP_057700.3:n.1248-34C= | |
NM_016616.5:c.1248-34C= (NME8) MANE Select | NP_057700.3:n.1248-34C= |