HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75985699T>A , CM000676.2:g.75985699T>A | GRCh38 |
NC_000014.8:g.76452042T>A , CM000676.1:g.76452042T>A | GRCh37 |
NC_000014.7:g.75521795T>A | NCBI36 |
NG_011715.1:g.1051A>T , LRG_399:g.1051A>T | |
NG_031957.1:g.4947T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555677.5:n.90-3186T>A |