HGVS | Genome Assembly |
---|---|
NC_000001.11:g.159886558A>T , CM000663.2:g.159886558A>T | GRCh38 |
NC_000001.10:g.159856348A>T , CM000663.1:g.159856348A>T | GRCh37 |
NC_000001.9:g.158122972A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368099.9:c.720T>A MANE Select | ENSP00000357079.4:p.Ile240= | |
ENST00000368099.8:c.720T>A | ENSP00000357079.4:p.Ile240= | |
ENST00000426543.6:c.465T>A | ENSP00000403044.2:p.Ile155= | |
ENST00000476696.5:c.720T>A | ENSP00000483972.1:p.Ile240= | |
NM_012337.2:c.720T>A | NP_036469.2:p.Ile240= | |
NM_012337.3:c.720T>A MANE Select | NP_036469.2:p.Ile240= |