HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55152046T>A , CM000681.2:g.55152046T>A | GRCh38 |
NC_000019.9:g.55663414T>A , CM000681.1:g.55663414T>A | GRCh37 |
NC_000019.8:g.60355226T>A | NCBI36 |
NG_007866.2:g.10687A>T , LRG_432:g.10687A>T | |
NG_011829.2:g.2193A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.550-129A>T MANE Select | ENSP00000341838.5:n.550-129A>T | |
ENST00000665070.1:c.583-129A>T | ENSP00000499482.1:n.583-129A>T | |
ENST00000344887.9:c.550-129A>T | ENSP00000341838.5:n.550-129A>T | |
ENST00000585806.5:n.549-129A>T | ||
ENST00000588882.1:c.475-129A>T | ENSP00000466729.1:n.475-129A>T | |
ENST00000589864.1:n.378-129A>T | ||
NM_000363.4:c.550-129A>T , LRG_432t1:c.550-129A>T | NP_000354.4:n.550-129A>T | |
NM_000363.5:c.550-129A>T MANE Select | NP_000354.4:n.550-129A>T |