HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73404202C>T , CM000666.2:g.73404202C>T | GRCh38 |
NC_000004.11:g.74269919C>T , CM000666.1:g.74269919C>T | GRCh37 |
NC_000004.10:g.74488783C>T | NCBI36 |
NG_009291.1:g.4948C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000441319.5:c.48-167C>T | ENSP00000392541.1:n.48-167C>T |