HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19466639C>G , CM000686.2:g.19466639C>G | GRCh38 |
NC_000024.9:g.21628525C>G , CM000686.1:g.21628525C>G | GRCh37 |
NC_000024.8:g.20087913C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650676.1:n.1477G>C | ||
ENST00000400605.5:n.1471G>C | ||
ENST00000441139.5:n.1488G>C | ||
ENST00000513194.1:n.4384G>C | ||
NR_002923.2:n.1488G>C | ||
NR_033732.1:n.1488G>C |