HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154750G>A , CM000681.2:g.55154750G>A | GRCh38 |
NC_000019.9:g.55666118G>A , CM000681.1:g.55666118G>A | GRCh37 |
NC_000019.8:g.60357930G>A | NCBI36 |
NG_007866.2:g.7983C>T , LRG_432:g.7983C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.363C>T MANE Select | ENSP00000341838.5:p.Asn121= | |
ENST00000665070.1:c.363C>T | ENSP00000499482.1:p.Asn121= | |
ENST00000344887.9:c.363C>T | ENSP00000341838.5:p.Asn121= | |
ENST00000585806.5:n.362C>T | ||
ENST00000586669.5:n.371C>T | ||
ENST00000587176.5:n.547C>T | ||
ENST00000588882.1:c.288C>T | ENSP00000466729.1:p.Asn96= | |
ENST00000590463.1:n.535C>T | ||
NM_000363.4:c.363C>T , LRG_432t1:c.363C>T | NP_000354.4:p.Asn121= | |
NM_000363.5:c.363C>T MANE Select | NP_000354.4:p.Asn121= |