HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467290C>A , CM000672.2:g.129467290C>A | GRCh38 |
NC_000010.10:g.131265554C>A , CM000672.1:g.131265554C>A | GRCh37 |
NC_000010.9:g.131155544C>A | NCBI36 |
NG_052673.1:g.5107C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.75C>A | ENSP00000302111.7:p.Cys25Ter | |
ENST00000651593.1:c.-19C>A MANE Select | ENSP00000498729.1:n.-19C>A | |
ENST00000306010.7:c.75C>A | ENSP00000302111.7:p.Cys25Ter | |
ENST00000482547.1:n.29C>A | ||
ENST00000482653.1:n.62C>A | ||
NM_002412.3:c.75C>A | NP_002403.2:p.Cys25Ter | |
NM_002412.4:c.75C>A | NP_002403.2:p.Cys25Ter | |
NM_002412.5:c.-19C>A MANE Select | NP_002403.3:n.-19C>A |