HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154186C>A , CM000681.2:g.55154186C>A | GRCh38 |
NC_000019.9:g.55665554C>A , CM000681.1:g.55665554C>A | GRCh37 |
NC_000019.8:g.60357366C>A | NCBI36 |
NG_007866.2:g.8547G>T , LRG_432:g.8547G>T | |
NG_011829.2:g.53G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.393G>T MANE Select | ENSP00000341838.5:p.Lys131Asn | |
ENST00000665070.1:c.426G>T | ENSP00000499482.1:p.Lys142Asn | |
ENST00000344887.9:c.393G>T | ENSP00000341838.5:p.Lys131Asn | |
ENST00000585806.5:n.392G>T | ||
ENST00000586669.5:n.401G>T | ||
ENST00000588882.1:c.318G>T | ENSP00000466729.1:p.Lys106Asn | |
ENST00000589864.1:n.221G>T | ||
NM_000363.4:c.393G>T , LRG_432t1:c.393G>T | NP_000354.4:p.Lys131Asn | |
NM_000363.5:c.393G>T MANE Select | NP_000354.4:p.Lys131Asn |