HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19482942A>T , CM000686.2:g.19482942A>T | GRCh38 |
NC_000024.9:g.21644828A>T , CM000686.1:g.21644828A>T | GRCh37 |
NC_000024.8:g.20104216A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650676.1:n.112-2648T>A | ||
ENST00000400605.5:n.106-2648T>A | ||
ENST00000441139.5:n.123-2648T>A | ||
ENST00000513194.1:n.1943T>A | ||
NR_002923.2:n.123-2648T>A | ||
NR_033732.1:n.123-2648T>A |