HGVS | Genome Assembly |
---|---|
NC_000007.14:g.2830379A>T , CM000669.2:g.2830379A>T | GRCh38 |
NC_000007.13:g.2870013A>T , CM000669.1:g.2870013A>T | GRCh37 |
NC_000007.12:g.2836539A>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000275364.8:c.309+13474T>A MANE Select | ENSP00000275364.3:n.309+13474T>A | |
ENST00000275364.7:c.309+13474T>A | ENSP00000275364.3:n.309+13474T>A | |
NM_001293092.1:c.309+13474T>A | NP_001280021.1:n.309+13474T>A | |
NM_007353.2:c.309+13474T>A | NP_031379.2:n.309+13474T>A | |
XM_011515288.1:c.19-35236T>A | XP_011513590.1:n.19-35236T>A | |
XM_011515288.3:c.19-35236T>A | XP_011513590.1:n.19-35236T>A | |
NM_007353.3:c.309+13474T>A MANE Select | NP_031379.2:n.309+13474T>A | |
NM_001293092.2:c.309+13474T>A | NP_001280021.1:n.309+13474T>A |