HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19483093T>G , CM000686.2:g.19483093T>G | GRCh38 |
NC_000024.9:g.21644979T>G , CM000686.1:g.21644979T>G | GRCh37 |
NC_000024.8:g.20104367T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650676.1:n.112-2799A>C | ||
ENST00000400605.5:n.106-2799A>C | ||
ENST00000441139.5:n.123-2799A>C | ||
ENST00000513194.1:n.1792A>C | ||
NR_002923.2:n.123-2799A>C | ||
NR_033732.1:n.123-2799A>C |