HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624163A= , CM000679.2:g.41624163A= | GRCh38 |
NC_000017.10:g.39780415A= , CM000679.1:g.39780415A= | GRCh37 |
NC_000017.9:g.37033941A= | NCBI36 |
NG_008625.1:g.5468T= | |
NG_009090.2:g.167550T= , LRG_401:g.167550T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.347T= MANE Select | ENSP00000308452.8:p.Ile116= | |
ENST00000311208.12:c.347T= | ENSP00000308452.8:p.Ile116= | |
ENST00000463128.5:c.-269T= | ENSP00000468672.1:n.-269T= | |
ENST00000491673.1:n.413T= | ||
ENST00000493253.5:n.134T= | ||
ENST00000540235.5:c.98T= | ENSP00000441751.2:p.Ile33= | |
ENST00000577817.3:c.302T= | ENSP00000467418.1:p.Ile101= | |
NM_000422.2:c.347T= | NP_000413.1:p.Ile116= | |
NM_000422.3:c.347T= MANE Select | NP_000413.1:p.Ile116= |