HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19484851A>C , CM000686.2:g.19484851A>C | GRCh38 |
NC_000024.9:g.21646737A>C , CM000686.1:g.21646737A>C | GRCh37 |
NC_000024.8:g.20106125A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650676.1:n.112-4557T>G | ||
ENST00000400605.5:n.106-4557T>G | ||
ENST00000441139.5:n.123-4557T>G | ||
ENST00000513194.1:n.34T>G | ||
NR_002923.2:n.123-4557T>G | ||
NR_033732.1:n.123-4557T>G |