HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133538920T= , CM000672.2:g.133538920T= | GRCh38 |
NC_000010.10:g.135352424T= , CM000672.1:g.135352424T= | GRCh37 |
NC_000010.9:g.135202414T= | NCBI36 |
NG_008383.1:g.16558T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252945.8:c.1438T= MANE Select | ENSP00000252945.3:p.Cys480= | |
ENST00000252945.7:c.1438T= | ENSP00000252945.3:p.Cys480= | |
ENST00000368520.1:n.1358+1028T= | ||
ENST00000463117.6:c.1438T= | ENSP00000440689.1:p.Cys480= | |
ENST00000469258.1:n.534T= | ||
NM_000773.3:c.1438T= | NP_000764.1:p.Cys480= | |
NM_000773.4:c.1438T= MANE Select | NP_000764.1:p.Cys480= |