HGVS | Genome Assembly |
---|---|
NC_000017.11:g.35576043G>T , CM000679.2:g.35576043G>T | GRCh38 |
NC_000017.10:g.33903062G>T , CM000679.1:g.33903062G>T | GRCh37 |
NC_000017.9:g.30927175G>T | NCBI36 |
NG_008447.1:g.7595C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225873.9:c.819C>A MANE Select | ENSP00000225873.3:p.Ile273= | |
ENST00000586663.2:c.819C>A | ENSP00000466894.2:p.Ile273= | |
ENST00000225873.8:c.819C>A | ENSP00000225873.3:p.Ile273= | |
ENST00000586663.1:c.819C>A | ENSP00000466894.1:p.Ile273= | |
ENST00000613219.4:c.819C>A | ENSP00000482609.1:p.Ile273= | |
NM_000286.2:c.819C>A | NP_000277.1:p.Ile273= | |
NM_000286.3:c.819C>A MANE Select | NP_000277.1:p.Ile273= |