HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6718287G= , CM000681.2:g.6718287G= | GRCh38 |
NC_000019.9:g.6718298G= , CM000681.1:g.6718298G= | GRCh37 |
NC_000019.8:g.6669298G= | NCBI36 |
NG_009557.1:g.7365C= , LRG_27:g.7365C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000594936.2:n.454C= | ||
ENST00000695652.1:c.270C= | ENSP00000512083.1:p.Phe90= | |
ENST00000695693.1:c.393C= | ENSP00000512104.1:p.Phe131= | |
ENST00000245907.11:c.393C= MANE Select | ENSP00000245907.4:p.Phe131= | |
ENST00000245907.10:c.393C= | ENSP00000245907.4:p.Phe131= | |
ENST00000594936.1:n.454C= | ||
ENST00000600744.1:c.270C= | ENSP00000472044.1:p.Phe90= | |
NM_000064.3:c.393C= | NP_000055.2:p.Phe131= | |
NM_000064.4:c.393C= MANE Select | NP_000055.2:p.Phe131= |