HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173288C= , CM000678.2:g.173288C= | GRCh38 |
NC_000016.9:g.223287C= , CM000678.1:g.223287C= | GRCh37 |
NC_000016.8:g.163287C= | NCBI36 |
NG_000006.1:g.34151C= | |
NG_059186.1:g.1638C= | |
NG_059271.1:g.5442C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.259C= MANE Select | ENSP00000251595.6:p.Leu87= | |
ENST00000251595.10:c.259C= | ENSP00000251595.6:p.Leu87= | |
ENST00000397806.1:c.163C= | ENSP00000380908.1:p.Leu55= | |
ENST00000482565.1:n.395C= | ||
ENST00000484216.1:n.228C= | ||
NM_000517.4:c.259C= | NP_000508.1:p.Leu87= | |
NM_000517.6:c.259C= MANE Select | NP_000508.1:p.Leu87= |