HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94942314C>A , CM000672.2:g.94942314C>A | GRCh38 |
NC_000010.10:g.96702071C>A , CM000672.1:g.96702071C>A | GRCh37 |
NC_000010.9:g.96692061C>A | NCBI36 |
NG_008385.1:g.8657C>A | |
NG_008385.2:g.9157C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.454C>A MANE Select | ENSP00000260682.6:p.Leu152Ile | |
ENST00000643112.1:c.454C>A | ENSP00000496202.1:p.Leu152Ile | |
ENST00000645207.1:n.607C>A | ||
ENST00000260682.6:c.454C>A | ENSP00000260682.6:p.Leu152Ile | |
ENST00000461906.1:n.479C>A | ||
ENST00000473496.1:n.225C>A | ||
NM_000771.3:c.454C>A | NP_000762.2:p.Leu152Ile | |
NM_000771.4:c.454C>A MANE Select | NP_000762.2:p.Leu152Ile |