HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467281C>A , CM000672.2:g.129467281C>A | GRCh38 |
NC_000010.10:g.131265545C>A , CM000672.1:g.131265545C>A | GRCh37 |
NC_000010.9:g.131155535C>A | NCBI36 |
NG_052673.1:g.5098C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.66C>A | ENSP00000302111.7:p.Arg22= | |
ENST00000651593.1:c.-28C>A MANE Select | ENSP00000498729.1:n.-28C>A | |
ENST00000306010.7:c.66C>A | ENSP00000302111.7:p.Arg22= | |
ENST00000482547.1:n.20C>A | ||
ENST00000482653.1:n.53C>A | ||
NM_002412.3:c.66C>A | NP_002403.2:p.Arg22= | |
NM_002412.4:c.66C>A | NP_002403.2:p.Arg22= | |
NM_002412.5:c.-28C>A MANE Select | NP_002403.3:n.-28C>A |