HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132395T= , CM000669.2:g.147132395T= | GRCh38 |
NC_000007.13:g.146829487T= , CM000669.1:g.146829487T= | GRCh37 |
NC_000007.12:g.146460420T= | NCBI36 |
NG_007092.2:g.1021035T= | |
NG_007092.3:g.1021395T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1234T= MANE Select | ENSP00000354778.3:p.Phe412= | |
ENST00000636561.1:n.1137T= | ||
ENST00000636870.1:n.1096T= | ||
ENST00000637150.1:n.1163T= | ||
ENST00000637694.1:n.1137T= | ||
ENST00000637825.1:n.717T= | ||
ENST00000638117.1:n.1137T= | ||
ENST00000361727.7:c.1234T= | ENSP00000354778.3:p.Phe412= | |
NM_014141.5:c.1234T= | NP_054860.1:p.Phe412= | |
XM_017011950.2:c.1234T= | XP_016867439.1:p.Phe412= | |
NM_014141.6:c.1234T= MANE Select | NP_054860.1:p.Phe412= |