HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58273668A= , CM000679.2:g.58273668A= | GRCh38 |
NC_000017.10:g.56351029A= , CM000679.1:g.56351029A= | GRCh37 |
NC_000017.9:g.53706028A= | NCBI36 |
NG_009629.1:g.12268T= , LRG_84:g.12268T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000578493.2:n.700T= | ||
ENST00000699291.1:c.492T= | ENSP00000514272.1:p.Asp164= | |
ENST00000699292.1:n.407T= | ||
ENST00000225275.4:c.1367T= MANE Select | ENSP00000225275.3:p.Ile456= | |
ENST00000225275.3:c.1367T= | ENSP00000225275.3:p.Ile456= | |
NM_000250.1:c.1367T= , LRG_84t1:c.1367T= | NP_000241.1:p.Ile456= | |
XM_011524821.1:c.1553T= | XP_011523123.1:p.Ile518= | |
XM_011524822.1:c.1082T= | XP_011523124.1:p.Ile361= | |
XM_011524823.1:c.1392T= | XP_011523125.1:p.Asp464= | |
NM_000250.2:c.1367T= MANE Select | NP_000241.1:p.Ile456= |