HGVS | Genome Assembly |
---|---|
NC_000012.12:g.64728959A= , CM000674.2:g.64728959A= | GRCh38 |
NC_000012.11:g.65122739A= , CM000674.1:g.65122739A= | GRCh37 |
NC_000012.10:g.63409006A= | NCBI36 |
NG_008955.1:g.35488T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258145.8:c.1197T= MANE Select | ENSP00000258145.3:p.Ile399= | |
ENST00000258145.7:c.1197T= | ENSP00000258145.3:p.Ile399= | |
ENST00000418919.6:c.1029T= | ENSP00000413130.2:p.Ile343= | |
ENST00000537823.1:n.196T= | ||
ENST00000540196.5:c.557-5846T= | ||
ENST00000540883.1:n.260T= | ||
ENST00000541781.5:n.1252T= | ||
ENST00000542058.5:c.1137T= | ENSP00000444819.1:p.Ile379= | |
ENST00000543646.5:c.1293T= | ENSP00000438497.1:p.Ile431= | |
NM_002076.3:c.1197T= | NP_002067.1:p.Ile399= | |
NM_002076.4:c.1197T= MANE Select | NP_002067.1:p.Ile399= |