HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154184A>T , CM000681.2:g.55154184A>T | GRCh38 |
NC_000019.9:g.55665552A>T , CM000681.1:g.55665552A>T | GRCh37 |
NC_000019.8:g.60357364A>T | NCBI36 |
NG_007866.2:g.8549T>A , LRG_432:g.8549T>A | |
NG_011829.2:g.55T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.395T>A MANE Select | ENSP00000341838.5:p.Ile132Asn | |
ENST00000665070.1:c.428T>A | ENSP00000499482.1:p.Ile143Asn | |
ENST00000344887.9:c.395T>A | ENSP00000341838.5:p.Ile132Asn | |
ENST00000585806.5:n.394T>A | ||
ENST00000586669.5:n.403T>A | ||
ENST00000588882.1:c.320T>A | ENSP00000466729.1:p.Ile107Asn | |
ENST00000589864.1:n.223T>A | ||
NM_000363.4:c.395T>A , LRG_432t1:c.395T>A | NP_000354.4:p.Ile132Asn | |
NM_000363.5:c.395T>A MANE Select | NP_000354.4:p.Ile132Asn |