HGVS | Genome Assembly |
---|---|
NC_000007.14:g.142957956G= , CM000669.2:g.142957956G= | GRCh38 |
NC_000007.13:g.142655043G= , CM000669.1:g.142655043G= | GRCh37 |
NC_000007.12:g.142365165G= | NCBI36 |
NG_007492.1:g.9461C= | |
NG_007492.2:g.9461C= | |
NG_007492.3:g.9461C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355265.7:c.543C= MANE Select | ENSP00000347409.2:p.Ile181= | |
ENST00000467543.6:c.*395C= | ENSP00000420011.2:n.*395C= | |
ENST00000355265.6:c.543C= | ENSP00000347409.2:p.Ile181= | |
ENST00000467543.5:c.486C= | ENSP00000420011.1:p.Ile162= | |
ENST00000476829.5:c.525+348C= | ENSP00000419889.1:n.525+348C= | |
ENST00000479768.6:n.661C= | ||
ENST00000494148.1:n.142C= | ||
NM_000420.2:c.543C= | NP_000411.1:p.Ile181= | |
XM_005249993.2:c.579C= | XP_005250050.1:p.Ile193= | |
NM_000420.3:c.543C= MANE Select | NP_000411.1:p.Ile181= |