HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6710843G= , CM000681.2:g.6710843G= | GRCh38 |
NC_000019.9:g.6710854G= , CM000681.1:g.6710854G= | GRCh37 |
NC_000019.8:g.6661854G= | NCBI36 |
NG_009557.1:g.14809C= , LRG_27:g.14809C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695652.1:c.1359C= | ENSP00000512083.1:p.Ile453= | |
ENST00000695654.1:c.606C= | ENSP00000512085.1:p.Ile202= | |
ENST00000695655.1:c.387C= | ENSP00000512086.1:p.Ile129= | |
ENST00000695692.1:n.846C= | ||
ENST00000245907.11:c.1482C= MANE Select | ENSP00000245907.4:p.Ile494= | |
ENST00000245907.10:c.1482C= | ENSP00000245907.4:p.Ile494= | |
ENST00000600763.1:n.115C= | ||
NM_000064.3:c.1482C= | NP_000055.2:p.Ile494= | |
NM_000064.4:c.1482C= MANE Select | NP_000055.2:p.Ile494= |