HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58273657G= , CM000679.2:g.58273657G= | GRCh38 |
NC_000017.10:g.56351018G= , CM000679.1:g.56351018G= | GRCh37 |
NC_000017.9:g.53706017G= | NCBI36 |
NG_009629.1:g.12279C= , LRG_84:g.12279C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000578493.2:n.711C= | ||
ENST00000699291.1:c.503C= | ENSP00000514272.1:p.Pro168= | |
ENST00000699292.1:n.418C= | ||
ENST00000225275.4:c.1378C= MANE Select | ENSP00000225275.3:p.Arg460= | |
ENST00000225275.3:c.1378C= | ENSP00000225275.3:p.Arg460= | |
NM_000250.1:c.1378C= , LRG_84t1:c.1378C= | NP_000241.1:p.Arg460= | |
XM_011524821.1:c.1564C= | XP_011523123.1:p.Arg522= | |
XM_011524822.1:c.1093C= | XP_011523124.1:p.Arg365= | |
XM_011524823.1:c.1403C= | XP_011523125.1:p.Pro468= | |
NM_000250.2:c.1378C= MANE Select | NP_000241.1:p.Arg460= |