HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19482461A>T , CM000686.2:g.19482461A>T | GRCh38 |
NC_000024.9:g.21644347A>T , CM000686.1:g.21644347A>T | GRCh37 |
NC_000024.8:g.20103735A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650676.1:n.112-2167T>A | ||
ENST00000400605.5:n.106-2167T>A | ||
ENST00000441139.5:n.123-2167T>A | ||
ENST00000513194.1:n.2424T>A | ||
NR_002923.2:n.123-2167T>A | ||
NR_033732.1:n.123-2167T>A |