HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58273620A= , CM000679.2:g.58273620A= | GRCh38 |
NC_000017.10:g.56350981A= , CM000679.1:g.56350981A= | GRCh37 |
NC_000017.9:g.53705980A= | NCBI36 |
NG_009629.1:g.12316T= , LRG_84:g.12316T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000578493.2:n.748T= | ||
ENST00000699291.1:c.540T= | ENSP00000514272.1:p.His180= | |
ENST00000699292.1:n.455T= | ||
ENST00000225275.4:c.1415T= MANE Select | ENSP00000225275.3:p.Met472= | |
ENST00000225275.3:c.1415T= | ENSP00000225275.3:p.Met472= | |
NM_000250.1:c.1415T= , LRG_84t1:c.1415T= | NP_000241.1:p.Met472= | |
XM_011524821.1:c.1601T= | XP_011523123.1:p.Met534= | |
XM_011524822.1:c.1130T= | XP_011523124.1:p.Met377= | |
XM_011524823.1:c.1440T= | XP_011523125.1:p.His480= | |
NM_000250.2:c.1415T= MANE Select | NP_000241.1:p.Met472= |